Canonical Allele Identifier: CA379803312

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17406950-C-T
• MyVariant Identifiers: chr11:g.17428497C>T (hg19) ; chr11:g.17406950C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406950C>T , CM000673.2:g.17406950C>T	GRCh38
NC_000011.9:g.17428497C>T , CM000673.1:g.17428497C>T	GRCh37
NC_000011.8:g.17385073C>T	NCBI36
NG_008867.1:g.74953G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.2669G>A
ENST00000529967.6:n.1439G>A
ENST00000532220.2:n.832G>A
ENST00000642611.2:n.3169G>A
ENST00000645004.2:n.599G>A
ENST00000682051.1:n.3116G>A
ENST00000682110.1:n.3169G>A
ENST00000682140.1:c.3097G>A	ENSP00000507829.1:p.Ala1033Thr
ENST00000682185.1:n.4405G>A
ENST00000682204.1:c.*1238G>A	ENSP00000507094.1:n.*1238G>A
ENST00000682215.1:n.3166G>A
ENST00000682288.1:c.*1531G>A	ENSP00000507506.1:n.*1531G>A
ENST00000682442.1:n.3290G>A
ENST00000682528.1:n.3246G>A
ENST00000682673.1:n.3113G>A
ENST00000682805.1:n.3166G>A
ENST00000682965.1:c.3097G>A	ENSP00000508229.1:p.Ala1033Thr
ENST00000683093.1:n.3268G>A
ENST00000683136.1:c.3097G>A	ENSP00000507768.1:p.Ala1033Thr
ENST00000683153.1:n.3325G>A
ENST00000683365.1:n.3271G>A
ENST00000683377.1:n.3169G>A
ENST00000683456.1:c.*237G>A	ENSP00000508318.1:n.*237G>A
ENST00000683522.1:n.3169G>A
ENST00000683562.1:c.*1269G>A	ENSP00000508265.1:n.*1269G>A
ENST00000683693.1:n.3246G>A
ENST00000683725.1:c.3100G>A	ENSP00000507496.1:p.Ala1034Thr
ENST00000684010.1:n.3164G>A
ENST00000684157.1:n.3169G>A
ENST00000684253.1:n.3072G>A
ENST00000684288.1:c.*1272G>A	ENSP00000507143.1:n.*1272G>A
ENST00000684313.1:n.2601G>A
ENST00000684332.1:n.3242G>A
ENST00000684371.1:n.3275G>A
ENST00000684404.1:n.3212G>A
ENST00000684442.1:n.3169G>A
ENST00000684555.1:c.*1312G>A	ENSP00000507705.1:n.*1312G>A
ENST00000684571.1:c.2941G>A	ENSP00000506935.1:p.Ala981Thr
ENST00000684593.1:c.*2805G>A	ENSP00000507005.1:n.*2805G>A
ENST00000684711.1:c.*1496G>A	ENSP00000506841.1:n.*1496G>A
ENST00000302539.9:c.3103G>A	ENSP00000303960.4:p.Ala1035Thr
ENST00000389817.8:c.3100G>A MANE Select	ENSP00000374467.4:p.Ala1034Thr
ENST00000642271.1:c.3097G>A	ENSP00000493749.1:p.Ala1033Thr
ENST00000642579.1:c.1184G>A
ENST00000642611.1:n.3054G>A
ENST00000642902.1:c.2882G>A
ENST00000643260.1:c.3100G>A	ENSP00000494450.1:p.Ala1034Thr
ENST00000643562.1:c.*1076G>A	ENSP00000496124.1:n.*1076G>A
ENST00000643925.1:c.1224G>A
ENST00000644447.1:c.1456G>A	ENSP00000496282.1:p.Ala486Thr
ENST00000644484.1:c.*1355G>A	ENSP00000493558.1:n.*1355G>A
ENST00000644542.1:c.*2805G>A	ENSP00000495532.1:n.*2805G>A
ENST00000644675.1:c.*1272G>A	ENSP00000494567.1:n.*1272G>A
ENST00000644757.1:c.*1385G>A	ENSP00000495085.1:n.*1385G>A
ENST00000644772.1:c.3166G>A	ENSP00000494321.1:p.Ala1056Thr
ENST00000645004.1:n.239G>A
ENST00000645076.1:c.2299G>A
ENST00000645417.1:c.266G>A
ENST00000645744.1:c.*1364G>A	ENSP00000494564.1:n.*1364G>A
ENST00000645760.1:c.3375G>A
ENST00000645884.1:c.*237G>A	ENSP00000495516.1:n.*237G>A
ENST00000646003.1:c.*1056G>A	ENSP00000495259.1:n.*1056G>A
ENST00000646207.1:c.*1567G>A	ENSP00000495025.1:n.*1567G>A
ENST00000646276.1:c.*1373G>A	ENSP00000496070.1:n.*1373G>A
ENST00000646592.1:c.2406G>A
ENST00000646902.1:c.3097G>A	ENSP00000494101.1:p.Ala1033Thr
ENST00000646993.1:c.*1496G>A	ENSP00000493720.1:n.*1496G>A
ENST00000647013.1:c.3106G>A	ENSP00000496741.1:n.3106G>A
ENST00000647015.1:c.2851G>A	ENSP00000495389.1:p.Ala951Thr
ENST00000647086.1:c.*2830G>A	ENSP00000493677.1:n.*2830G>A
ENST00000647158.1:c.*1241G>A	ENSP00000495744.1:n.*1241G>A
ENST00000302539.8:c.3103G>A	ENSP00000303960.4:p.Ala1035Thr
ENST00000389817.7:c.3100G>A	ENSP00000374467.3:p.Ala1034Thr
ENST00000524561.1:n.232G>A
ENST00000526921.5:n.784G>A
ENST00000527905.5:c.2970G>A	ENSP00000431653.1:p.Trp990Ter
ENST00000529967.5:n.769G>A
NM_000352.4:c.3100G>A	NP_000343.2:p.Ala1034Thr
NM_001287174.1:c.3103G>A	NP_001274103.1:p.Ala1035Thr
XM_011520331.1:c.3100G>A	XP_011518633.1:p.Ala1034Thr
XM_011520332.1:c.3103G>A	XP_011518634.1:p.Ala1035Thr
XM_011520333.1:c.1600G>A	XP_011518635.1:p.Ala534Thr
XR_930890.1:n.3166G>A
XR_930891.1:n.3166G>A
XR_930892.1:n.3066G>A
XR_930893.1:n.3063G>A
NM_001351295.1:c.3166G>A	NP_001338224.1:p.Ala1056Thr
NM_001351296.1:c.3100G>A	NP_001338225.1:p.Ala1034Thr
NM_001351297.1:c.3097G>A	NP_001338226.1:p.Ala1033Thr
NR_147094.1:n.3249G>A
XM_017018197.2:c.3169G>A	XP_016873686.1:p.Ala1057Thr
XM_017018199.1:c.3166G>A	XP_016873688.1:p.Ala1056Thr
XM_017018201.2:c.3169G>A	XP_016873690.1:p.Ala1057Thr
XM_017018202.1:c.1666G>A	XP_016873691.1:p.Ala556Thr
XM_017018204.1:c.1057G>A	XP_016873693.1:p.Ala353Thr
XM_024448668.1:c.1468G>A	XP_024304436.1:p.Ala490Thr
XR_001747945.2:n.3241G>A
XR_001747946.2:n.3172G>A
XR_002957189.1:n.3321G>A
NM_000352.6:c.3100G>A MANE Select	NP_000343.2:p.Ala1034Thr
NM_001287174.2:c.3103G>A	NP_001274103.1:p.Ala1035Thr
NM_001351295.2:c.3166G>A	NP_001338224.1:p.Ala1056Thr
NM_001351296.2:c.3100G>A	NP_001338225.1:p.Ala1034Thr
NM_001351297.2:c.3097G>A	NP_001338226.1:p.Ala1033Thr
NR_147094.2:n.3249G>A
NM_001287174.3:c.3103G>A	NP_001274103.1:p.Ala1035Thr