Canonical Allele Identifier: CA379787880

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395869-A-T
• MyVariant Identifiers: chr11:g.17417416A>T (hg19) ; chr11:g.17395869A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395869A>T , CM000673.2:g.17395869A>T	GRCh38
NC_000011.9:g.17417416A>T , CM000673.1:g.17417416A>T	GRCh37
NC_000011.8:g.17373992A>T	NCBI36
NG_008867.1:g.86034T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3782T>A
ENST00000528374.2:c.772T>A
ENST00000529967.6:n.2520T>A
ENST00000532220.2:n.3414T>A
ENST00000642611.2:n.5381T>A
ENST00000644057.2:n.624T>A
ENST00000645004.2:n.1680T>A
ENST00000682051.1:n.4343T>A
ENST00000682110.1:n.4396T>A
ENST00000682140.1:c.4047T>A	ENSP00000507829.1:p.His1349Gln
ENST00000682185.1:n.5486T>A
ENST00000682204.1:c.*2319T>A	ENSP00000507094.1:n.*2319T>A
ENST00000682215.1:n.4763T>A
ENST00000682288.1:c.*2612T>A	ENSP00000507506.1:n.*2612T>A
ENST00000682442.1:n.4616T>A
ENST00000682528.1:n.4473T>A
ENST00000682673.1:n.4340T>A
ENST00000682805.1:n.4801T>A
ENST00000682965.1:c.*603T>A	ENSP00000508229.1:n.*603T>A
ENST00000683093.1:n.5480T>A
ENST00000683136.1:c.4064T>A	ENSP00000507768.1:p.Met1355Lys
ENST00000683153.1:n.4438T>A
ENST00000683365.1:n.4498T>A
ENST00000683377.1:n.4396T>A
ENST00000683456.1:c.*1318T>A	ENSP00000508318.1:n.*1318T>A
ENST00000683522.1:n.4396T>A
ENST00000683562.1:c.*2350T>A	ENSP00000508265.1:n.*2350T>A
ENST00000683693.1:n.5828T>A
ENST00000683725.1:c.4181T>A	ENSP00000507496.1:p.Met1394Lys
ENST00000684010.1:n.4391T>A
ENST00000684157.1:n.5381T>A
ENST00000684253.1:n.4299T>A
ENST00000684288.1:c.*2353T>A	ENSP00000507143.1:n.*2353T>A
ENST00000684313.1:n.3828T>A
ENST00000684332.1:n.4469T>A
ENST00000684371.1:n.4502T>A
ENST00000684404.1:n.5424T>A
ENST00000684442.1:n.4620T>A
ENST00000684555.1:c.*2393T>A	ENSP00000507705.1:n.*2393T>A
ENST00000684571.1:c.4022T>A	ENSP00000506935.1:p.Met1341Lys
ENST00000684593.1:c.*3886T>A	ENSP00000507005.1:n.*3886T>A
ENST00000684711.1:c.*2577T>A	ENSP00000506841.1:n.*2577T>A
ENST00000302539.9:c.4184T>A	ENSP00000303960.4:p.Met1395Lys
ENST00000389817.8:c.4181T>A MANE Select	ENSP00000374467.4:p.Met1394Lys
ENST00000642271.1:c.4178T>A	ENSP00000493749.1:p.Met1393Lys
ENST00000642579.1:c.2235T>A
ENST00000642611.1:n.5266T>A
ENST00000642902.1:c.3963T>A
ENST00000643260.1:c.4181T>A	ENSP00000494450.1:p.Met1394Lys
ENST00000643562.1:c.*2303T>A	ENSP00000496124.1:n.*2303T>A
ENST00000643925.1:c.2821T>A
ENST00000644057.1:n.258T>A
ENST00000644484.1:c.*3567T>A	ENSP00000493558.1:n.*3567T>A
ENST00000644675.1:c.*2353T>A	ENSP00000494567.1:n.*2353T>A
ENST00000644757.1:c.*3202+395T>A	ENSP00000495085.1:n.*3202+395T>A
ENST00000644772.1:c.4247T>A	ENSP00000494321.1:p.Met1416Lys
ENST00000645004.1:n.1874T>A
ENST00000645076.1:c.3380T>A
ENST00000645417.1:c.1369T>A
ENST00000645744.1:c.*3946T>A	ENSP00000494564.1:n.*3946T>A
ENST00000645760.1:c.4602T>A
ENST00000645884.1:c.*1464T>A	ENSP00000495516.1:n.*1464T>A
ENST00000646003.1:c.*2283T>A	ENSP00000495259.1:n.*2283T>A
ENST00000646207.1:c.*3018T>A	ENSP00000495025.1:n.*3018T>A
ENST00000646276.1:c.*3585T>A	ENSP00000496070.1:n.*3585T>A
ENST00000646592.1:c.3487T>A
ENST00000646902.1:c.4148T>A	ENSP00000494101.1:p.Met1383Lys
ENST00000646993.1:c.*2723T>A	ENSP00000493720.1:n.*2723T>A
ENST00000647013.1:c.4187T>A	ENSP00000496741.1:n.4187T>A
ENST00000647015.1:c.3932T>A	ENSP00000495389.1:p.Met1311Lys
ENST00000647086.1:c.*3767T>A	ENSP00000493677.1:n.*3767T>A
ENST00000647158.1:c.*2468T>A	ENSP00000495744.1:n.*2468T>A
ENST00000302539.8:c.4184T>A	ENSP00000303960.4:p.Met1395Lys
ENST00000389817.7:c.4181T>A	ENSP00000374467.3:p.Met1394Lys
ENST00000525022.1:n.47T>A
ENST00000526168.5:c.49T>A
ENST00000531642.5:c.17T>A
NM_000352.4:c.4181T>A	NP_000343.2:p.Met1394Lys
NM_001287174.1:c.4184T>A	NP_001274103.1:p.Met1395Lys
XM_011520331.1:c.4181T>A	XP_011518633.1:p.Met1394Lys
XM_011520332.1:c.4184T>A	XP_011518634.1:p.Met1395Lys
XM_011520333.1:c.2681T>A	XP_011518635.1:p.Met894Lys
XR_930890.1:n.4247T>A
NM_001351295.1:c.4247T>A	NP_001338224.1:p.Met1416Lys
NM_001351296.1:c.4181T>A	NP_001338225.1:p.Met1394Lys
NM_001351297.1:c.4178T>A	NP_001338226.1:p.Met1393Lys
NR_147094.1:n.4476T>A
XM_017018197.2:c.4250T>A	XP_016873686.1:p.Met1417Lys
XM_017018199.1:c.4247T>A	XP_016873688.1:p.Met1416Lys
XM_017018201.2:c.4250T>A	XP_016873690.1:p.Met1417Lys
XM_017018202.1:c.2747T>A	XP_016873691.1:p.Met916Lys
XM_017018204.1:c.2138T>A	XP_016873693.1:p.Met713Lys
XM_024448668.1:c.2549T>A	XP_024304436.1:p.Met850Lys
XR_001747945.2:n.4322T>A
XR_001747946.2:n.4253T>A
XR_002957189.1:n.5903T>A
NM_000352.6:c.4181T>A MANE Select	NP_000343.2:p.Met1394Lys
NM_001287174.2:c.4184T>A	NP_001274103.1:p.Met1395Lys
NM_001351295.2:c.4247T>A	NP_001338224.1:p.Met1416Lys
NM_001351296.2:c.4181T>A	NP_001338225.1:p.Met1394Lys
NM_001351297.2:c.4178T>A	NP_001338226.1:p.Met1393Lys
NR_147094.2:n.4476T>A
NM_001287174.3:c.4184T>A	NP_001274103.1:p.Met1395Lys