Canonical Allele Identifier: CA379803512

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428518C>A (hg19) ; chr11:g.17406971C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406971C>A , CM000673.2:g.17406971C>A	GRCh38
NC_000011.9:g.17428518C>A , CM000673.1:g.17428518C>A	GRCh37
NC_000011.8:g.17385094C>A	NCBI36
NG_008867.1:g.74932G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2648G>T
ENST00000529967.6:n.1418G>T
ENST00000532220.2:n.811G>T
ENST00000642611.2:n.3148G>T
ENST00000645004.2:n.578G>T
ENST00000682051.1:n.3095G>T
ENST00000682110.1:n.3148G>T
ENST00000682140.1:c.3076G>T	ENSP00000507829.1:p.Val1026Leu
ENST00000682185.1:n.4384G>T
ENST00000682204.1:c.*1217G>T	ENSP00000507094.1:n.*1217G>T
ENST00000682215.1:n.3145G>T
ENST00000682288.1:c.*1510G>T	ENSP00000507506.1:n.*1510G>T
ENST00000682442.1:n.3269G>T
ENST00000682528.1:n.3225G>T
ENST00000682673.1:n.3092G>T
ENST00000682805.1:n.3145G>T
ENST00000682965.1:c.3076G>T	ENSP00000508229.1:p.Val1026Leu
ENST00000683093.1:n.3247G>T
ENST00000683136.1:c.3076G>T	ENSP00000507768.1:p.Val1026Leu
ENST00000683153.1:n.3304G>T
ENST00000683365.1:n.3250G>T
ENST00000683377.1:n.3148G>T
ENST00000683456.1:c.*216G>T	ENSP00000508318.1:n.*216G>T
ENST00000683522.1:n.3148G>T
ENST00000683562.1:c.*1248G>T	ENSP00000508265.1:n.*1248G>T
ENST00000683693.1:n.3225G>T
ENST00000683725.1:c.3079G>T	ENSP00000507496.1:p.Val1027Leu
ENST00000684010.1:n.3143G>T
ENST00000684157.1:n.3148G>T
ENST00000684253.1:n.3051G>T
ENST00000684288.1:c.*1251G>T	ENSP00000507143.1:n.*1251G>T
ENST00000684313.1:n.2580G>T
ENST00000684332.1:n.3221G>T
ENST00000684371.1:n.3254G>T
ENST00000684404.1:n.3191G>T
ENST00000684442.1:n.3148G>T
ENST00000684555.1:c.*1291G>T	ENSP00000507705.1:n.*1291G>T
ENST00000684571.1:c.2920G>T	ENSP00000506935.1:p.Val974Leu
ENST00000684593.1:c.*2784G>T	ENSP00000507005.1:n.*2784G>T
ENST00000684711.1:c.*1475G>T	ENSP00000506841.1:n.*1475G>T
ENST00000302539.9:c.3082G>T	ENSP00000303960.4:p.Val1028Leu
ENST00000389817.8:c.3079G>T MANE Select	ENSP00000374467.4:p.Val1027Leu
ENST00000642271.1:c.3076G>T	ENSP00000493749.1:p.Val1026Leu
ENST00000642579.1:c.1163G>T
ENST00000642611.1:n.3033G>T
ENST00000642902.1:c.2861G>T
ENST00000643260.1:c.3079G>T	ENSP00000494450.1:p.Val1027Leu
ENST00000643562.1:c.*1055G>T	ENSP00000496124.1:n.*1055G>T
ENST00000643925.1:c.1203G>T
ENST00000644447.1:c.1435G>T	ENSP00000496282.1:p.Val479Leu
ENST00000644484.1:c.*1334G>T	ENSP00000493558.1:n.*1334G>T
ENST00000644542.1:c.*2784G>T	ENSP00000495532.1:n.*2784G>T
ENST00000644675.1:c.*1251G>T	ENSP00000494567.1:n.*1251G>T
ENST00000644757.1:c.*1364G>T	ENSP00000495085.1:n.*1364G>T
ENST00000644772.1:c.3145G>T	ENSP00000494321.1:p.Val1049Leu
ENST00000645004.1:n.218G>T
ENST00000645076.1:c.2278G>T
ENST00000645417.1:c.245G>T
ENST00000645744.1:c.*1343G>T	ENSP00000494564.1:n.*1343G>T
ENST00000645760.1:c.3354G>T
ENST00000645884.1:c.*216G>T	ENSP00000495516.1:n.*216G>T
ENST00000646003.1:c.*1035G>T	ENSP00000495259.1:n.*1035G>T
ENST00000646207.1:c.*1546G>T	ENSP00000495025.1:n.*1546G>T
ENST00000646276.1:c.*1352G>T	ENSP00000496070.1:n.*1352G>T
ENST00000646592.1:c.2385G>T
ENST00000646902.1:c.3076G>T	ENSP00000494101.1:p.Val1026Leu
ENST00000646993.1:c.*1475G>T	ENSP00000493720.1:n.*1475G>T
ENST00000647013.1:c.3085G>T	ENSP00000496741.1:n.3085G>T
ENST00000647015.1:c.2830G>T	ENSP00000495389.1:p.Val944Leu
ENST00000647086.1:c.*2809G>T	ENSP00000493677.1:n.*2809G>T
ENST00000647158.1:c.*1220G>T	ENSP00000495744.1:n.*1220G>T
ENST00000302539.8:c.3082G>T	ENSP00000303960.4:p.Val1028Leu
ENST00000389817.7:c.3079G>T	ENSP00000374467.3:p.Val1027Leu
ENST00000524561.1:n.211G>T
ENST00000526921.5:n.763G>T
ENST00000527905.5:c.2949G>T	ENSP00000431653.1:p.Trp983Cys
ENST00000529967.5:n.748G>T
NM_000352.4:c.3079G>T	NP_000343.2:p.Val1027Leu
NM_001287174.1:c.3082G>T	NP_001274103.1:p.Val1028Leu
XM_011520331.1:c.3079G>T	XP_011518633.1:p.Val1027Leu
XM_011520332.1:c.3082G>T	XP_011518634.1:p.Val1028Leu
XM_011520333.1:c.1579G>T	XP_011518635.1:p.Val527Leu
XR_930890.1:n.3145G>T
XR_930891.1:n.3145G>T
XR_930892.1:n.3045G>T
XR_930893.1:n.3042G>T
NM_001351295.1:c.3145G>T	NP_001338224.1:p.Val1049Leu
NM_001351296.1:c.3079G>T	NP_001338225.1:p.Val1027Leu
NM_001351297.1:c.3076G>T	NP_001338226.1:p.Val1026Leu
NR_147094.1:n.3228G>T
XM_017018197.2:c.3148G>T	XP_016873686.1:p.Val1050Leu
XM_017018199.1:c.3145G>T	XP_016873688.1:p.Val1049Leu
XM_017018201.2:c.3148G>T	XP_016873690.1:p.Val1050Leu
XM_017018202.1:c.1645G>T	XP_016873691.1:p.Val549Leu
XM_017018204.1:c.1036G>T	XP_016873693.1:p.Val346Leu
XM_024448668.1:c.1447G>T	XP_024304436.1:p.Val483Leu
XR_001747945.2:n.3220G>T
XR_001747946.2:n.3151G>T
XR_002957189.1:n.3300G>T
NM_000352.6:c.3079G>T MANE Select	NP_000343.2:p.Val1027Leu
NM_001287174.2:c.3082G>T	NP_001274103.1:p.Val1028Leu
NM_001351295.2:c.3145G>T	NP_001338224.1:p.Val1049Leu
NM_001351296.2:c.3079G>T	NP_001338225.1:p.Val1027Leu
NM_001351297.2:c.3076G>T	NP_001338226.1:p.Val1026Leu
NR_147094.2:n.3228G>T
NM_001287174.3:c.3082G>T	NP_001274103.1:p.Val1028Leu