Canonical Allele Identifier: CA218417075

Gene: ABCC8

Linked Data

• dbSNP Id: rs1001830938
• gnomAD v3: 11-17404460-C-T
• gnomAD v4: 11-17404460-C-T
• MyVariant Identifiers: chr11:g.17426007C>T (hg19) ; chr11:g.17404460C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404460C>T , CM000673.2:g.17404460C>T	GRCh38
NC_000011.9:g.17426007C>T , CM000673.1:g.17426007C>T	GRCh37
NC_000011.8:g.17382583C>T	NCBI36
NG_008867.1:g.77443G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3126+52G>A
ENST00000528374.2:c.136+52G>A
ENST00000529967.6:n.1896+52G>A
ENST00000532220.2:n.1289+52G>A
ENST00000642611.2:n.3626+52G>A
ENST00000645004.2:n.1056+52G>A
ENST00000682051.1:n.3573+52G>A
ENST00000682110.1:n.3626+52G>A
ENST00000682140.1:c.3554+52G>A	ENSP00000507829.1:n.3554+52G>A
ENST00000682185.1:n.4862+52G>A
ENST00000682204.1:c.*1695+52G>A	ENSP00000507094.1:n.*1695+52G>A
ENST00000682215.1:n.3623+52G>A
ENST00000682288.1:c.*1988+52G>A	ENSP00000507506.1:n.*1988+52G>A
ENST00000682442.1:n.3846+52G>A
ENST00000682528.1:n.3703+52G>A
ENST00000682673.1:n.3570+52G>A
ENST00000682805.1:n.3623+52G>A
ENST00000682965.1:c.3396+1034G>A	ENSP00000508229.1:n.3396+1034G>A
ENST00000683093.1:n.3725+52G>A
ENST00000683136.1:c.3554+52G>A	ENSP00000507768.1:n.3554+52G>A
ENST00000683153.1:n.3782+52G>A
ENST00000683365.1:n.3728+52G>A
ENST00000683377.1:n.3626+52G>A
ENST00000683456.1:c.*694+52G>A	ENSP00000508318.1:n.*694+52G>A
ENST00000683522.1:n.3626+52G>A
ENST00000683562.1:c.*1726+52G>A	ENSP00000508265.1:n.*1726+52G>A
ENST00000683693.1:n.3703+52G>A
ENST00000683725.1:c.3557+52G>A	ENSP00000507496.1:n.3557+52G>A
ENST00000684010.1:n.3621+52G>A
ENST00000684157.1:n.3626+52G>A
ENST00000684253.1:n.3529+52G>A
ENST00000684288.1:c.*1729+52G>A	ENSP00000507143.1:n.*1729+52G>A
ENST00000684313.1:n.3058+52G>A
ENST00000684332.1:n.3699+52G>A
ENST00000684371.1:n.3732+52G>A
ENST00000684404.1:n.3669+52G>A
ENST00000684442.1:n.3626+52G>A
ENST00000684555.1:c.*1769+52G>A	ENSP00000507705.1:n.*1769+52G>A
ENST00000684571.1:c.3398+52G>A	ENSP00000506935.1:n.3398+52G>A
ENST00000684593.1:c.*3262+52G>A	ENSP00000507005.1:n.*3262+52G>A
ENST00000684711.1:c.*1953+52G>A	ENSP00000506841.1:n.*1953+52G>A
ENST00000302539.9:c.3560+52G>A	ENSP00000303960.4:n.3560+52G>A
ENST00000389817.8:c.3557+52G>A MANE Select	ENSP00000374467.4:n.3557+52G>A
ENST00000642271.1:c.3554+52G>A	ENSP00000493749.1:n.3554+52G>A
ENST00000642579.1:c.1641+52G>A
ENST00000642611.1:n.3511+52G>A
ENST00000642902.1:c.3339+52G>A
ENST00000643260.1:c.3557+52G>A	ENSP00000494450.1:n.3557+52G>A
ENST00000643562.1:c.*1533+52G>A	ENSP00000496124.1:n.*1533+52G>A
ENST00000643925.1:c.1681+52G>A
ENST00000644447.1:c.1913+52G>A	ENSP00000496282.1:n.1913+52G>A
ENST00000644484.1:c.*1812+52G>A	ENSP00000493558.1:n.*1812+52G>A
ENST00000644675.1:c.*1729+52G>A	ENSP00000494567.1:n.*1729+52G>A
ENST00000644757.1:c.*1842+52G>A	ENSP00000495085.1:n.*1842+52G>A
ENST00000644772.1:c.3623+52G>A	ENSP00000494321.1:n.3623+52G>A
ENST00000645004.1:n.696+52G>A
ENST00000645076.1:c.2756+52G>A
ENST00000645417.1:c.723+52G>A
ENST00000645744.1:c.*1821+52G>A	ENSP00000494564.1:n.*1821+52G>A
ENST00000645760.1:c.3832+52G>A
ENST00000645884.1:c.*694+52G>A	ENSP00000495516.1:n.*694+52G>A
ENST00000646003.1:c.*1513+52G>A	ENSP00000495259.1:n.*1513+52G>A
ENST00000646207.1:c.*2024+52G>A	ENSP00000495025.1:n.*2024+52G>A
ENST00000646276.1:c.*1830+52G>A	ENSP00000496070.1:n.*1830+52G>A
ENST00000646592.1:c.2863+52G>A
ENST00000646902.1:c.3554+52G>A	ENSP00000494101.1:n.3554+52G>A
ENST00000646993.1:c.*1953+52G>A	ENSP00000493720.1:n.*1953+52G>A
ENST00000647013.1:c.3563+52G>A	ENSP00000496741.1:n.3563+52G>A
ENST00000647015.1:c.3308+52G>A	ENSP00000495389.1:n.3308+52G>A
ENST00000647086.1:c.*3287+52G>A	ENSP00000493677.1:n.*3287+52G>A
ENST00000647158.1:c.*1698+52G>A	ENSP00000495744.1:n.*1698+52G>A
ENST00000302539.8:c.3560+52G>A	ENSP00000303960.4:n.3560+52G>A
ENST00000389817.7:c.3557+52G>A	ENSP00000374467.3:n.3557+52G>A
ENST00000524561.1:n.689+52G>A
ENST00000527905.5:c.*433+52G>A	ENSP00000431653.1:n.*433+52G>A
ENST00000528374.1:c.27+52G>A
ENST00000531137.1:n.50+52G>A
NM_000352.4:c.3557+52G>A	NP_000343.2:n.3557+52G>A
NM_001287174.1:c.3560+52G>A	NP_001274103.1:n.3560+52G>A
XM_011520331.1:c.3557+52G>A	XP_011518633.1:n.3557+52G>A
XM_011520332.1:c.3560+52G>A	XP_011518634.1:n.3560+52G>A
XM_011520333.1:c.2057+52G>A	XP_011518635.1:n.2057+52G>A
XR_930890.1:n.3623+52G>A
XR_930892.1:n.3523+52G>A
XR_930893.1:n.3520+52G>A
NM_001351295.1:c.3623+52G>A	NP_001338224.1:n.3623+52G>A
NM_001351296.1:c.3557+52G>A	NP_001338225.1:n.3557+52G>A
NM_001351297.1:c.3554+52G>A	NP_001338226.1:n.3554+52G>A
NR_147094.1:n.3706+52G>A
XM_017018197.2:c.3626+52G>A	XP_016873686.1:n.3626+52G>A
XM_017018199.1:c.3623+52G>A	XP_016873688.1:n.3623+52G>A
XM_017018201.2:c.3626+52G>A	XP_016873690.1:n.3626+52G>A
XM_017018202.1:c.2123+52G>A	XP_016873691.1:n.2123+52G>A
XM_017018204.1:c.1514+52G>A	XP_016873693.1:n.1514+52G>A
XM_024448668.1:c.1925+52G>A	XP_024304436.1:n.1925+52G>A
XR_001747945.2:n.3698+52G>A
XR_001747946.2:n.3629+52G>A
XR_002957189.1:n.3778+52G>A
NM_000352.6:c.3557+52G>A MANE Select	NP_000343.2:n.3557+52G>A
NM_001287174.2:c.3560+52G>A	NP_001274103.1:n.3560+52G>A
NM_001351295.2:c.3623+52G>A	NP_001338224.1:n.3623+52G>A
NM_001351296.2:c.3557+52G>A	NP_001338225.1:n.3557+52G>A
NM_001351297.2:c.3554+52G>A	NP_001338226.1:n.3554+52G>A
NR_147094.2:n.3706+52G>A
NM_001287174.3:c.3560+52G>A	NP_001274103.1:n.3560+52G>A