Canonical Allele Identifier: CA379791103

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17397022-C-T
• MyVariant Identifiers: chr11:g.17418569C>T (hg19) ; chr11:g.17397022C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397022C>T , CM000673.2:g.17397022C>T	GRCh38
NC_000011.9:g.17418569C>T , CM000673.1:g.17418569C>T	GRCh37
NC_000011.8:g.17375145C>T	NCBI36
NG_008867.1:g.84881G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3614G>A
ENST00000528374.2:c.604G>A
ENST00000529967.6:n.2352G>A
ENST00000532220.2:n.2261G>A
ENST00000642611.2:n.4228G>A
ENST00000644057.2:n.456G>A
ENST00000645004.2:n.1512G>A
ENST00000682051.1:n.4175G>A
ENST00000682110.1:n.4228G>A
ENST00000682140.1:c.3985+171G>A	ENSP00000507829.1:n.3985+171G>A
ENST00000682185.1:n.5318G>A
ENST00000682204.1:c.*2151G>A	ENSP00000507094.1:n.*2151G>A
ENST00000682215.1:n.4595G>A
ENST00000682288.1:c.*2444G>A	ENSP00000507506.1:n.*2444G>A
ENST00000682442.1:n.4448G>A
ENST00000682528.1:n.4305G>A
ENST00000682673.1:n.4172G>A
ENST00000682805.1:n.4595G>A
ENST00000682965.1:c.*435G>A	ENSP00000508229.1:n.*435G>A
ENST00000683093.1:n.4327G>A
ENST00000683136.1:c.3896G>A	ENSP00000507768.1:p.Trp1299Ter
ENST00000683153.1:n.4270G>A
ENST00000683365.1:n.4330G>A
ENST00000683377.1:n.4228G>A
ENST00000683456.1:c.*1150G>A	ENSP00000508318.1:n.*1150G>A
ENST00000683522.1:n.4228G>A
ENST00000683562.1:c.*2182G>A	ENSP00000508265.1:n.*2182G>A
ENST00000683693.1:n.4675G>A
ENST00000683725.1:c.4013G>A	ENSP00000507496.1:p.Trp1338Ter
ENST00000684010.1:n.4223G>A
ENST00000684157.1:n.4228G>A
ENST00000684253.1:n.4131G>A
ENST00000684288.1:c.*2185G>A	ENSP00000507143.1:n.*2185G>A
ENST00000684313.1:n.3660G>A
ENST00000684332.1:n.4301G>A
ENST00000684371.1:n.4334G>A
ENST00000684404.1:n.4271G>A
ENST00000684442.1:n.4452G>A
ENST00000684555.1:c.*2225G>A	ENSP00000507705.1:n.*2225G>A
ENST00000684571.1:c.3854G>A	ENSP00000506935.1:p.Trp1285Ter
ENST00000684593.1:c.*3718G>A	ENSP00000507005.1:n.*3718G>A
ENST00000684711.1:c.*2409G>A	ENSP00000506841.1:n.*2409G>A
ENST00000302539.9:c.4016G>A	ENSP00000303960.4:p.Trp1339Ter
ENST00000389817.8:c.4013G>A MANE Select	ENSP00000374467.4:p.Trp1338Ter
ENST00000642271.1:c.4010G>A	ENSP00000493749.1:p.Trp1337Ter
ENST00000642579.1:c.2073-6G>A
ENST00000642611.1:n.4113G>A
ENST00000642902.1:c.3795G>A
ENST00000643260.1:c.4013G>A	ENSP00000494450.1:p.Trp1338Ter
ENST00000643562.1:c.*2135G>A	ENSP00000496124.1:n.*2135G>A
ENST00000643925.1:c.2653G>A
ENST00000644057.1:n.90G>A
ENST00000644484.1:c.*2414G>A	ENSP00000493558.1:n.*2414G>A
ENST00000644675.1:c.*2185G>A	ENSP00000494567.1:n.*2185G>A
ENST00000644757.1:c.*2444G>A	ENSP00000495085.1:n.*2444G>A
ENST00000644772.1:c.4079G>A	ENSP00000494321.1:p.Trp1360Ter
ENST00000645004.1:n.1668G>A
ENST00000645076.1:c.3212G>A
ENST00000645417.1:c.1201G>A
ENST00000645744.1:c.*2793G>A	ENSP00000494564.1:n.*2793G>A
ENST00000645760.1:c.4434G>A
ENST00000645884.1:c.*1296G>A	ENSP00000495516.1:n.*1296G>A
ENST00000646003.1:c.*2115G>A	ENSP00000495259.1:n.*2115G>A
ENST00000646207.1:c.*2850G>A	ENSP00000495025.1:n.*2850G>A
ENST00000646276.1:c.*2432G>A	ENSP00000496070.1:n.*2432G>A
ENST00000646592.1:c.3319G>A
ENST00000646902.1:c.3986-6G>A	ENSP00000494101.1:n.3986-6G>A
ENST00000646993.1:c.*2555G>A	ENSP00000493720.1:n.*2555G>A
ENST00000647013.1:c.4019G>A	ENSP00000496741.1:n.4019G>A
ENST00000647015.1:c.3764G>A	ENSP00000495389.1:p.Trp1255Ter
ENST00000647086.1:c.*3605-6G>A	ENSP00000493677.1:n.*3605-6G>A
ENST00000647158.1:c.*2300G>A	ENSP00000495744.1:n.*2300G>A
ENST00000302539.8:c.4016G>A	ENSP00000303960.4:p.Trp1339Ter
ENST00000389817.7:c.4013G>A	ENSP00000374467.3:p.Trp1338Ter
ENST00000527905.5:c.*1035G>A	ENSP00000431653.1:n.*1035G>A
ENST00000528374.1:c.495G>A
ENST00000531137.1:n.578G>A
ENST00000531891.1:c.357-6G>A
ENST00000532220.1:n.487G>A
NM_000352.4:c.4013G>A	NP_000343.2:p.Trp1338Ter
NM_001287174.1:c.4016G>A	NP_001274103.1:p.Trp1339Ter
XM_011520331.1:c.4013G>A	XP_011518633.1:p.Trp1338Ter
XM_011520332.1:c.4016G>A	XP_011518634.1:p.Trp1339Ter
XM_011520333.1:c.2513G>A	XP_011518635.1:p.Trp838Ter
XR_930890.1:n.4079G>A
NM_001351295.1:c.4079G>A	NP_001338224.1:p.Trp1360Ter
NM_001351296.1:c.4013G>A	NP_001338225.1:p.Trp1338Ter
NM_001351297.1:c.4010G>A	NP_001338226.1:p.Trp1337Ter
NR_147094.1:n.4308G>A
XM_017018197.2:c.4082G>A	XP_016873686.1:p.Trp1361Ter
XM_017018199.1:c.4079G>A	XP_016873688.1:p.Trp1360Ter
XM_017018201.2:c.4082G>A	XP_016873690.1:p.Trp1361Ter
XM_017018202.1:c.2579G>A	XP_016873691.1:p.Trp860Ter
XM_017018204.1:c.1970G>A	XP_016873693.1:p.Trp657Ter
XM_024448668.1:c.2381G>A	XP_024304436.1:p.Trp794Ter
XR_001747945.2:n.4154G>A
XR_001747946.2:n.4085G>A
XR_002957189.1:n.4750G>A
NM_000352.6:c.4013G>A MANE Select	NP_000343.2:p.Trp1338Ter
NM_001287174.2:c.4016G>A	NP_001274103.1:p.Trp1339Ter
NM_001351295.2:c.4079G>A	NP_001338224.1:p.Trp1360Ter
NM_001351296.2:c.4013G>A	NP_001338225.1:p.Trp1338Ter
NM_001351297.2:c.4010G>A	NP_001338226.1:p.Trp1337Ter
NR_147094.2:n.4308G>A
NM_001287174.3:c.4016G>A	NP_001274103.1:p.Trp1339Ter