Canonical Allele Identifier: CA379798424

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426174G>A (hg19) ; chr11:g.17404627G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404627G>A , CM000673.2:g.17404627G>A	GRCh38
NC_000011.9:g.17426174G>A , CM000673.1:g.17426174G>A	GRCh37
NC_000011.8:g.17382750G>A	NCBI36
NG_008867.1:g.77276C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3011C>T
ENST00000528374.2:c.21C>T
ENST00000529967.6:n.1781C>T
ENST00000532220.2:n.1174C>T
ENST00000642611.2:n.3511C>T
ENST00000645004.2:n.941C>T
ENST00000682051.1:n.3458C>T
ENST00000682110.1:n.3511C>T
ENST00000682140.1:c.3439C>T	ENSP00000507829.1:p.Leu1147Phe
ENST00000682185.1:n.4747C>T
ENST00000682204.1:c.*1580C>T	ENSP00000507094.1:n.*1580C>T
ENST00000682215.1:n.3508C>T
ENST00000682288.1:c.*1873C>T	ENSP00000507506.1:n.*1873C>T
ENST00000682442.1:n.3731C>T
ENST00000682528.1:n.3588C>T
ENST00000682673.1:n.3455C>T
ENST00000682805.1:n.3508C>T
ENST00000682965.1:c.3396+867C>T	ENSP00000508229.1:n.3396+867C>T
ENST00000683093.1:n.3610C>T
ENST00000683136.1:c.3439C>T	ENSP00000507768.1:p.Leu1147Phe
ENST00000683153.1:n.3667C>T
ENST00000683365.1:n.3613C>T
ENST00000683377.1:n.3511C>T
ENST00000683456.1:c.*579C>T	ENSP00000508318.1:n.*579C>T
ENST00000683522.1:n.3511C>T
ENST00000683562.1:c.*1611C>T	ENSP00000508265.1:n.*1611C>T
ENST00000683693.1:n.3588C>T
ENST00000683725.1:c.3442C>T	ENSP00000507496.1:p.Leu1148Phe
ENST00000684010.1:n.3506C>T
ENST00000684157.1:n.3511C>T
ENST00000684253.1:n.3414C>T
ENST00000684288.1:c.*1614C>T	ENSP00000507143.1:n.*1614C>T
ENST00000684313.1:n.2943C>T
ENST00000684332.1:n.3584C>T
ENST00000684371.1:n.3617C>T
ENST00000684404.1:n.3554C>T
ENST00000684442.1:n.3511C>T
ENST00000684555.1:c.*1654C>T	ENSP00000507705.1:n.*1654C>T
ENST00000684571.1:c.3283C>T	ENSP00000506935.1:p.Leu1095Phe
ENST00000684593.1:c.*3147C>T	ENSP00000507005.1:n.*3147C>T
ENST00000684711.1:c.*1838C>T	ENSP00000506841.1:n.*1838C>T
ENST00000302539.9:c.3445C>T	ENSP00000303960.4:p.Leu1149Phe
ENST00000389817.8:c.3442C>T MANE Select	ENSP00000374467.4:p.Leu1148Phe
ENST00000642271.1:c.3439C>T	ENSP00000493749.1:p.Leu1147Phe
ENST00000642579.1:c.1526C>T
ENST00000642611.1:n.3396C>T
ENST00000642902.1:c.3224C>T
ENST00000643260.1:c.3442C>T	ENSP00000494450.1:p.Leu1148Phe
ENST00000643562.1:c.*1418C>T	ENSP00000496124.1:n.*1418C>T
ENST00000643925.1:c.1566C>T
ENST00000644447.1:c.1798C>T	ENSP00000496282.1:p.Leu600Phe
ENST00000644484.1:c.*1697C>T	ENSP00000493558.1:n.*1697C>T
ENST00000644675.1:c.*1614C>T	ENSP00000494567.1:n.*1614C>T
ENST00000644757.1:c.*1727C>T	ENSP00000495085.1:n.*1727C>T
ENST00000644772.1:c.3508C>T	ENSP00000494321.1:p.Leu1170Phe
ENST00000645004.1:n.581C>T
ENST00000645076.1:c.2641C>T
ENST00000645417.1:c.608C>T
ENST00000645744.1:c.*1706C>T	ENSP00000494564.1:n.*1706C>T
ENST00000645760.1:c.3717C>T
ENST00000645884.1:c.*579C>T	ENSP00000495516.1:n.*579C>T
ENST00000646003.1:c.*1398C>T	ENSP00000495259.1:n.*1398C>T
ENST00000646207.1:c.*1909C>T	ENSP00000495025.1:n.*1909C>T
ENST00000646276.1:c.*1715C>T	ENSP00000496070.1:n.*1715C>T
ENST00000646592.1:c.2748C>T
ENST00000646902.1:c.3439C>T	ENSP00000494101.1:p.Leu1147Phe
ENST00000646993.1:c.*1838C>T	ENSP00000493720.1:n.*1838C>T
ENST00000647013.1:c.3448C>T	ENSP00000496741.1:n.3448C>T
ENST00000647015.1:c.3193C>T	ENSP00000495389.1:p.Leu1065Phe
ENST00000647086.1:c.*3172C>T	ENSP00000493677.1:n.*3172C>T
ENST00000647158.1:c.*1583C>T	ENSP00000495744.1:n.*1583C>T
ENST00000302539.8:c.3445C>T	ENSP00000303960.4:p.Leu1149Phe
ENST00000389817.7:c.3442C>T	ENSP00000374467.3:p.Leu1148Phe
ENST00000524561.1:n.574C>T
ENST00000527905.5:c.*318C>T	ENSP00000431653.1:n.*318C>T
NM_000352.4:c.3442C>T	NP_000343.2:p.Leu1148Phe
NM_001287174.1:c.3445C>T	NP_001274103.1:p.Leu1149Phe
XM_011520331.1:c.3442C>T	XP_011518633.1:p.Leu1148Phe
XM_011520332.1:c.3445C>T	XP_011518634.1:p.Leu1149Phe
XM_011520333.1:c.1942C>T	XP_011518635.1:p.Leu648Phe
XR_930890.1:n.3508C>T
XR_930892.1:n.3408C>T
XR_930893.1:n.3405C>T
NM_001351295.1:c.3508C>T	NP_001338224.1:p.Leu1170Phe
NM_001351296.1:c.3442C>T	NP_001338225.1:p.Leu1148Phe
NM_001351297.1:c.3439C>T	NP_001338226.1:p.Leu1147Phe
NR_147094.1:n.3591C>T
XM_017018197.2:c.3511C>T	XP_016873686.1:p.Leu1171Phe
XM_017018199.1:c.3508C>T	XP_016873688.1:p.Leu1170Phe
XM_017018201.2:c.3511C>T	XP_016873690.1:p.Leu1171Phe
XM_017018202.1:c.2008C>T	XP_016873691.1:p.Leu670Phe
XM_017018204.1:c.1399C>T	XP_016873693.1:p.Leu467Phe
XM_024448668.1:c.1810C>T	XP_024304436.1:p.Leu604Phe
XR_001747945.2:n.3583C>T
XR_001747946.2:n.3514C>T
XR_002957189.1:n.3663C>T
NM_000352.6:c.3442C>T MANE Select	NP_000343.2:p.Leu1148Phe
NM_001287174.2:c.3445C>T	NP_001274103.1:p.Leu1149Phe
NM_001351295.2:c.3508C>T	NP_001338224.1:p.Leu1170Phe
NM_001351296.2:c.3442C>T	NP_001338225.1:p.Leu1148Phe
NM_001351297.2:c.3439C>T	NP_001338226.1:p.Leu1147Phe
NR_147094.2:n.3591C>T
NM_001287174.3:c.3445C>T	NP_001274103.1:p.Leu1149Phe