Canonical Allele Identifier: CA379797660

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426092T>G (hg19) ; chr11:g.17404545T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404545T>G , CM000673.2:g.17404545T>G	GRCh38
NC_000011.9:g.17426092T>G , CM000673.1:g.17426092T>G	GRCh37
NC_000011.8:g.17382668T>G	NCBI36
NG_008867.1:g.77358A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3093A>C
ENST00000528374.2:c.103A>C
ENST00000529967.6:n.1863A>C
ENST00000532220.2:n.1256A>C
ENST00000642611.2:n.3593A>C
ENST00000645004.2:n.1023A>C
ENST00000682051.1:n.3540A>C
ENST00000682110.1:n.3593A>C
ENST00000682140.1:c.3521A>C	ENSP00000507829.1:p.Tyr1174Ser
ENST00000682185.1:n.4829A>C
ENST00000682204.1:c.*1662A>C	ENSP00000507094.1:n.*1662A>C
ENST00000682215.1:n.3590A>C
ENST00000682288.1:c.*1955A>C	ENSP00000507506.1:n.*1955A>C
ENST00000682442.1:n.3813A>C
ENST00000682528.1:n.3670A>C
ENST00000682673.1:n.3537A>C
ENST00000682805.1:n.3590A>C
ENST00000682965.1:c.3396+949A>C	ENSP00000508229.1:n.3396+949A>C
ENST00000683093.1:n.3692A>C
ENST00000683136.1:c.3521A>C	ENSP00000507768.1:p.Tyr1174Ser
ENST00000683153.1:n.3749A>C
ENST00000683365.1:n.3695A>C
ENST00000683377.1:n.3593A>C
ENST00000683456.1:c.*661A>C	ENSP00000508318.1:n.*661A>C
ENST00000683522.1:n.3593A>C
ENST00000683562.1:c.*1693A>C	ENSP00000508265.1:n.*1693A>C
ENST00000683693.1:n.3670A>C
ENST00000683725.1:c.3524A>C	ENSP00000507496.1:p.Tyr1175Ser
ENST00000684010.1:n.3588A>C
ENST00000684157.1:n.3593A>C
ENST00000684253.1:n.3496A>C
ENST00000684288.1:c.*1696A>C	ENSP00000507143.1:n.*1696A>C
ENST00000684313.1:n.3025A>C
ENST00000684332.1:n.3666A>C
ENST00000684371.1:n.3699A>C
ENST00000684404.1:n.3636A>C
ENST00000684442.1:n.3593A>C
ENST00000684555.1:c.*1736A>C	ENSP00000507705.1:n.*1736A>C
ENST00000684571.1:c.3365A>C	ENSP00000506935.1:p.Tyr1122Ser
ENST00000684593.1:c.*3229A>C	ENSP00000507005.1:n.*3229A>C
ENST00000684711.1:c.*1920A>C	ENSP00000506841.1:n.*1920A>C
ENST00000302539.9:c.3527A>C	ENSP00000303960.4:p.Tyr1176Ser
ENST00000389817.8:c.3524A>C MANE Select	ENSP00000374467.4:p.Tyr1175Ser
ENST00000642271.1:c.3521A>C	ENSP00000493749.1:p.Tyr1174Ser
ENST00000642579.1:c.1608A>C
ENST00000642611.1:n.3478A>C
ENST00000642902.1:c.3306A>C
ENST00000643260.1:c.3524A>C	ENSP00000494450.1:p.Tyr1175Ser
ENST00000643562.1:c.*1500A>C	ENSP00000496124.1:n.*1500A>C
ENST00000643925.1:c.1648A>C
ENST00000644447.1:c.1880A>C	ENSP00000496282.1:p.Tyr627Ser
ENST00000644484.1:c.*1779A>C	ENSP00000493558.1:n.*1779A>C
ENST00000644675.1:c.*1696A>C	ENSP00000494567.1:n.*1696A>C
ENST00000644757.1:c.*1809A>C	ENSP00000495085.1:n.*1809A>C
ENST00000644772.1:c.3590A>C	ENSP00000494321.1:p.Tyr1197Ser
ENST00000645004.1:n.663A>C
ENST00000645076.1:c.2723A>C
ENST00000645417.1:c.690A>C
ENST00000645744.1:c.*1788A>C	ENSP00000494564.1:n.*1788A>C
ENST00000645760.1:c.3799A>C
ENST00000645884.1:c.*661A>C	ENSP00000495516.1:n.*661A>C
ENST00000646003.1:c.*1480A>C	ENSP00000495259.1:n.*1480A>C
ENST00000646207.1:c.*1991A>C	ENSP00000495025.1:n.*1991A>C
ENST00000646276.1:c.*1797A>C	ENSP00000496070.1:n.*1797A>C
ENST00000646592.1:c.2830A>C
ENST00000646902.1:c.3521A>C	ENSP00000494101.1:p.Tyr1174Ser
ENST00000646993.1:c.*1920A>C	ENSP00000493720.1:n.*1920A>C
ENST00000647013.1:c.3530A>C	ENSP00000496741.1:n.3530A>C
ENST00000647015.1:c.3275A>C	ENSP00000495389.1:p.Tyr1092Ser
ENST00000647086.1:c.*3254A>C	ENSP00000493677.1:n.*3254A>C
ENST00000647158.1:c.*1665A>C	ENSP00000495744.1:n.*1665A>C
ENST00000302539.8:c.3527A>C	ENSP00000303960.4:p.Tyr1176Ser
ENST00000389817.7:c.3524A>C	ENSP00000374467.3:p.Tyr1175Ser
ENST00000524561.1:n.656A>C
ENST00000527905.5:c.*400A>C	ENSP00000431653.1:n.*400A>C
ENST00000531137.1:n.17A>C
NM_000352.4:c.3524A>C	NP_000343.2:p.Tyr1175Ser
NM_001287174.1:c.3527A>C	NP_001274103.1:p.Tyr1176Ser
XM_011520331.1:c.3524A>C	XP_011518633.1:p.Tyr1175Ser
XM_011520332.1:c.3527A>C	XP_011518634.1:p.Tyr1176Ser
XM_011520333.1:c.2024A>C	XP_011518635.1:p.Tyr675Ser
XR_930890.1:n.3590A>C
XR_930892.1:n.3490A>C
XR_930893.1:n.3487A>C
NM_001351295.1:c.3590A>C	NP_001338224.1:p.Tyr1197Ser
NM_001351296.1:c.3524A>C	NP_001338225.1:p.Tyr1175Ser
NM_001351297.1:c.3521A>C	NP_001338226.1:p.Tyr1174Ser
NR_147094.1:n.3673A>C
XM_017018197.2:c.3593A>C	XP_016873686.1:p.Tyr1198Ser
XM_017018199.1:c.3590A>C	XP_016873688.1:p.Tyr1197Ser
XM_017018201.2:c.3593A>C	XP_016873690.1:p.Tyr1198Ser
XM_017018202.1:c.2090A>C	XP_016873691.1:p.Tyr697Ser
XM_017018204.1:c.1481A>C	XP_016873693.1:p.Tyr494Ser
XM_024448668.1:c.1892A>C	XP_024304436.1:p.Tyr631Ser
XR_001747945.2:n.3665A>C
XR_001747946.2:n.3596A>C
XR_002957189.1:n.3745A>C
NM_000352.6:c.3524A>C MANE Select	NP_000343.2:p.Tyr1175Ser
NM_001287174.2:c.3527A>C	NP_001274103.1:p.Tyr1176Ser
NM_001351295.2:c.3590A>C	NP_001338224.1:p.Tyr1197Ser
NM_001351296.2:c.3524A>C	NP_001338225.1:p.Tyr1175Ser
NM_001351297.2:c.3521A>C	NP_001338226.1:p.Tyr1174Ser
NR_147094.2:n.3673A>C
NM_001287174.3:c.3527A>C	NP_001274103.1:p.Tyr1176Ser