Canonical Allele Identifier: CA5902919

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 303766
• ClinVar RCV Id: RCV000292832 ; RCV000352427 ; RCV000394844 ; RCV001278400 ; RCV002250621 ; RCV002251452 ; RCV002056180
• dbSNP Id: rs367974472
• ExAC: 11:17428485 C / T
• gnomAD v2: 11-17428485-C-T
• gnomAD v3: 11-17406938-C-T
• gnomAD v4: 11-17406938-C-T
• MyVariant Identifiers: chr11:g.17428485C>T (hg19) ; chr11:g.17406938C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406938C>T , CM000673.2:g.17406938C>T	GRCh38
NC_000011.9:g.17428485C>T , CM000673.1:g.17428485C>T	GRCh37
NC_000011.8:g.17385061C>T	NCBI36
NG_008867.1:g.74965G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2681G>A
ENST00000529967.6:n.1451G>A
ENST00000532220.2:n.844G>A
ENST00000642611.2:n.3181G>A
ENST00000645004.2:n.611G>A
ENST00000682051.1:n.3128G>A
ENST00000682110.1:n.3181G>A
ENST00000682140.1:c.3109G>A	ENSP00000507829.1:p.Asp1037Asn
ENST00000682185.1:n.4417G>A
ENST00000682204.1:c.*1250G>A	ENSP00000507094.1:n.*1250G>A
ENST00000682215.1:n.3178G>A
ENST00000682288.1:c.*1543G>A	ENSP00000507506.1:n.*1543G>A
ENST00000682442.1:n.3302G>A
ENST00000682528.1:n.3258G>A
ENST00000682673.1:n.3125G>A
ENST00000682805.1:n.3178G>A
ENST00000682965.1:c.3109G>A	ENSP00000508229.1:p.Asp1037Asn
ENST00000683093.1:n.3280G>A
ENST00000683136.1:c.3109G>A	ENSP00000507768.1:p.Asp1037Asn
ENST00000683153.1:n.3337G>A
ENST00000683365.1:n.3283G>A
ENST00000683377.1:n.3181G>A
ENST00000683456.1:c.*249G>A	ENSP00000508318.1:n.*249G>A
ENST00000683522.1:n.3181G>A
ENST00000683562.1:c.*1281G>A	ENSP00000508265.1:n.*1281G>A
ENST00000683693.1:n.3258G>A
ENST00000683725.1:c.3112G>A	ENSP00000507496.1:p.Asp1038Asn
ENST00000684010.1:n.3176G>A
ENST00000684157.1:n.3181G>A
ENST00000684253.1:n.3084G>A
ENST00000684288.1:c.*1284G>A	ENSP00000507143.1:n.*1284G>A
ENST00000684313.1:n.2613G>A
ENST00000684332.1:n.3254G>A
ENST00000684371.1:n.3287G>A
ENST00000684404.1:n.3224G>A
ENST00000684442.1:n.3181G>A
ENST00000684555.1:c.*1324G>A	ENSP00000507705.1:n.*1324G>A
ENST00000684571.1:c.2953G>A	ENSP00000506935.1:p.Asp985Asn
ENST00000684593.1:c.*2817G>A	ENSP00000507005.1:n.*2817G>A
ENST00000684711.1:c.*1508G>A	ENSP00000506841.1:n.*1508G>A
ENST00000302539.9:c.3115G>A	ENSP00000303960.4:p.Asp1039Asn
ENST00000389817.8:c.3112G>A MANE Select	ENSP00000374467.4:p.Asp1038Asn
ENST00000642271.1:c.3109G>A	ENSP00000493749.1:p.Asp1037Asn
ENST00000642579.1:c.1196G>A
ENST00000642611.1:n.3066G>A
ENST00000642902.1:c.2894G>A
ENST00000643260.1:c.3112G>A	ENSP00000494450.1:p.Asp1038Asn
ENST00000643562.1:c.*1088G>A	ENSP00000496124.1:n.*1088G>A
ENST00000643925.1:c.1236G>A
ENST00000644447.1:c.1468G>A	ENSP00000496282.1:p.Asp490Asn
ENST00000644484.1:c.*1367G>A	ENSP00000493558.1:n.*1367G>A
ENST00000644542.1:c.*2817G>A	ENSP00000495532.1:n.*2817G>A
ENST00000644675.1:c.*1284G>A	ENSP00000494567.1:n.*1284G>A
ENST00000644757.1:c.*1397G>A	ENSP00000495085.1:n.*1397G>A
ENST00000644772.1:c.3178G>A	ENSP00000494321.1:p.Asp1060Asn
ENST00000645004.1:n.251G>A
ENST00000645076.1:c.2311G>A
ENST00000645417.1:c.278G>A
ENST00000645744.1:c.*1376G>A	ENSP00000494564.1:n.*1376G>A
ENST00000645760.1:c.3387G>A
ENST00000645884.1:c.*249G>A	ENSP00000495516.1:n.*249G>A
ENST00000646003.1:c.*1068G>A	ENSP00000495259.1:n.*1068G>A
ENST00000646207.1:c.*1579G>A	ENSP00000495025.1:n.*1579G>A
ENST00000646276.1:c.*1385G>A	ENSP00000496070.1:n.*1385G>A
ENST00000646592.1:c.2418G>A
ENST00000646902.1:c.3109G>A	ENSP00000494101.1:p.Asp1037Asn
ENST00000646993.1:c.*1508G>A	ENSP00000493720.1:n.*1508G>A
ENST00000647013.1:c.3118G>A	ENSP00000496741.1:n.3118G>A
ENST00000647015.1:c.2863G>A	ENSP00000495389.1:p.Asp955Asn
ENST00000647086.1:c.*2842G>A	ENSP00000493677.1:n.*2842G>A
ENST00000647158.1:c.*1253G>A	ENSP00000495744.1:n.*1253G>A
ENST00000302539.8:c.3115G>A	ENSP00000303960.4:p.Asp1039Asn
ENST00000389817.7:c.3112G>A	ENSP00000374467.3:p.Asp1038Asn
ENST00000524561.1:n.244G>A
ENST00000526921.5:n.796G>A
ENST00000527905.5:c.2982G>A	ENSP00000431653.1:p.Pro994=
ENST00000529967.5:n.781G>A
NM_000352.4:c.3112G>A	NP_000343.2:p.Asp1038Asn
NM_001287174.1:c.3115G>A	NP_001274103.1:p.Asp1039Asn
XM_011520331.1:c.3112G>A	XP_011518633.1:p.Asp1038Asn
XM_011520332.1:c.3115G>A	XP_011518634.1:p.Asp1039Asn
XM_011520333.1:c.1612G>A	XP_011518635.1:p.Asp538Asn
XR_930890.1:n.3178G>A
XR_930891.1:n.3178G>A
XR_930892.1:n.3078G>A
XR_930893.1:n.3075G>A
NM_001351295.1:c.3178G>A	NP_001338224.1:p.Asp1060Asn
NM_001351296.1:c.3112G>A	NP_001338225.1:p.Asp1038Asn
NM_001351297.1:c.3109G>A	NP_001338226.1:p.Asp1037Asn
NR_147094.1:n.3261G>A
XM_017018197.2:c.3181G>A	XP_016873686.1:p.Asp1061Asn
XM_017018199.1:c.3178G>A	XP_016873688.1:p.Asp1060Asn
XM_017018201.2:c.3181G>A	XP_016873690.1:p.Asp1061Asn
XM_017018202.1:c.1678G>A	XP_016873691.1:p.Asp560Asn
XM_017018204.1:c.1069G>A	XP_016873693.1:p.Asp357Asn
XM_024448668.1:c.1480G>A	XP_024304436.1:p.Asp494Asn
XR_001747945.2:n.3253G>A
XR_001747946.2:n.3184G>A
XR_002957189.1:n.3333G>A
NM_000352.6:c.3112G>A MANE Select	NP_000343.2:p.Asp1038Asn
NM_001287174.2:c.3115G>A	NP_001274103.1:p.Asp1039Asn
NM_001351295.2:c.3178G>A	NP_001338224.1:p.Asp1060Asn
NM_001351296.2:c.3112G>A	NP_001338225.1:p.Asp1038Asn
NM_001351297.2:c.3109G>A	NP_001338226.1:p.Asp1037Asn
NR_147094.2:n.3261G>A
NM_001287174.3:c.3115G>A	NP_001274103.1:p.Asp1039Asn