Canonical Allele Identifier: CA379782020

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415273A>G (hg19) ; chr11:g.17393726A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393726A>G , CM000673.2:g.17393726A>G	GRCh38
NC_000011.9:g.17415273A>G , CM000673.1:g.17415273A>G	GRCh37
NC_000011.8:g.17371849A>G	NCBI36
NG_008867.1:g.88177T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4180T>C
ENST00000526037.6:n.514T>C
ENST00000528374.2:c.1170T>C
ENST00000529967.6:n.2918T>C
ENST00000532220.2:n.3812T>C
ENST00000642611.2:n.5912T>C
ENST00000644057.2:n.1155T>C
ENST00000645004.2:n.2078T>C
ENST00000682051.1:n.4741T>C
ENST00000682110.1:n.4794T>C
ENST00000682140.1:c.*365T>C	ENSP00000507829.1:n.*365T>C
ENST00000682185.1:n.5884T>C
ENST00000682204.1:c.*2717T>C	ENSP00000507094.1:n.*2717T>C
ENST00000682215.1:n.5161T>C
ENST00000682288.1:c.*3010T>C	ENSP00000507506.1:n.*3010T>C
ENST00000682442.1:n.5014T>C
ENST00000682528.1:n.4871T>C
ENST00000682673.1:n.4738T>C
ENST00000682805.1:n.5199T>C
ENST00000682965.1:c.*1001T>C	ENSP00000508229.1:n.*1001T>C
ENST00000683093.1:n.5774T>C
ENST00000683136.1:c.4462T>C	ENSP00000507768.1:p.Phe1488Leu
ENST00000683153.1:n.4836T>C
ENST00000683365.1:n.4896T>C
ENST00000683377.1:n.4690T>C
ENST00000683456.1:c.*1716T>C	ENSP00000508318.1:n.*1716T>C
ENST00000683522.1:n.4876T>C
ENST00000683562.1:c.*2644T>C	ENSP00000508265.1:n.*2644T>C
ENST00000683693.1:n.6255T>C
ENST00000683725.1:c.*44T>C	ENSP00000507496.1:n.*44T>C
ENST00000684010.1:n.4789T>C
ENST00000684014.1:n.766T>C
ENST00000684157.1:n.5779T>C
ENST00000684253.1:n.4697T>C
ENST00000684288.1:c.*2751T>C	ENSP00000507143.1:n.*2751T>C
ENST00000684313.1:n.4226T>C
ENST00000684332.1:n.4867T>C
ENST00000684371.1:n.4900T>C
ENST00000684404.1:n.5822T>C
ENST00000684442.1:n.5018T>C
ENST00000684555.1:c.*2791T>C	ENSP00000507705.1:n.*2791T>C
ENST00000684571.1:c.4420T>C	ENSP00000506935.1:p.Phe1474Leu
ENST00000684593.1:c.*4284T>C	ENSP00000507005.1:n.*4284T>C
ENST00000684711.1:c.*2975T>C	ENSP00000506841.1:n.*2975T>C
ENST00000302539.9:c.4582T>C	ENSP00000303960.4:p.Phe1528Leu
ENST00000389817.8:c.4579T>C MANE Select	ENSP00000374467.4:p.Phe1527Leu
ENST00000642271.1:c.4576T>C	ENSP00000493749.1:p.Phe1526Leu
ENST00000642579.1:c.2633T>C
ENST00000642611.1:n.5797T>C
ENST00000642902.1:c.4361T>C
ENST00000643260.1:c.4579T>C	ENSP00000494450.1:p.Phe1527Leu
ENST00000643562.1:c.*2701T>C	ENSP00000496124.1:n.*2701T>C
ENST00000643925.1:c.3185+540T>C
ENST00000644057.1:n.738T>C
ENST00000644484.1:c.*3965T>C	ENSP00000493558.1:n.*3965T>C
ENST00000644675.1:c.*2751T>C	ENSP00000494567.1:n.*2751T>C
ENST00000644757.1:c.*3203-746T>C	ENSP00000495085.1:n.*3203-746T>C
ENST00000644772.1:c.4645T>C	ENSP00000494321.1:p.Phe1549Leu
ENST00000645004.1:n.2272T>C
ENST00000645076.1:c.3674T>C
ENST00000645417.1:c.1767T>C
ENST00000645744.1:c.*4264T>C	ENSP00000494564.1:n.*4264T>C
ENST00000645760.1:c.5000T>C
ENST00000645884.1:c.*1862T>C	ENSP00000495516.1:n.*1862T>C
ENST00000646003.1:c.*2601T>C	ENSP00000495259.1:n.*2601T>C
ENST00000646207.1:c.*3416T>C	ENSP00000495025.1:n.*3416T>C
ENST00000646276.1:c.*3983T>C	ENSP00000496070.1:n.*3983T>C
ENST00000646592.1:c.3885T>C
ENST00000646902.1:c.4546T>C	ENSP00000494101.1:p.Phe1516Leu
ENST00000646993.1:c.*3017T>C	ENSP00000493720.1:n.*3017T>C
ENST00000647015.1:c.4330T>C	ENSP00000495389.1:p.Phe1444Leu
ENST00000647086.1:c.*4165T>C	ENSP00000493677.1:n.*4165T>C
ENST00000647158.1:c.*2866T>C	ENSP00000495744.1:n.*2866T>C
ENST00000302539.8:c.4582T>C	ENSP00000303960.4:p.Phe1528Leu
ENST00000389817.7:c.4579T>C	ENSP00000374467.3:p.Phe1527Leu
ENST00000525022.1:n.474T>C
ENST00000526037.5:n.339T>C
ENST00000526168.5:c.367T>C
ENST00000531642.5:c.610T>C
NM_000352.4:c.4579T>C	NP_000343.2:p.Phe1527Leu
NM_001287174.1:c.4582T>C	NP_001274103.1:p.Phe1528Leu
XM_011520331.1:c.4579T>C	XP_011518633.1:p.Phe1527Leu
XM_011520333.1:c.3079T>C	XP_011518635.1:p.Phe1027Leu
XR_930890.1:n.4541T>C
NM_001351295.1:c.4645T>C	NP_001338224.1:p.Phe1549Leu
NM_001351296.1:c.4579T>C	NP_001338225.1:p.Phe1527Leu
NM_001351297.1:c.4576T>C	NP_001338226.1:p.Phe1526Leu
NR_147094.1:n.4874T>C
XM_017018197.2:c.4648T>C	XP_016873686.1:p.Phe1550Leu
XM_017018199.1:c.4645T>C	XP_016873688.1:p.Phe1549Leu
XM_017018202.1:c.3145T>C	XP_016873691.1:p.Phe1049Leu
XM_017018204.1:c.2536T>C	XP_016873693.1:p.Phe846Leu
XM_024448668.1:c.2947T>C	XP_024304436.1:p.Phe983Leu
XR_001747945.2:n.4616T>C
XR_001747946.2:n.4547T>C
XR_002957189.1:n.6330T>C
NM_000352.6:c.4579T>C MANE Select	NP_000343.2:p.Phe1527Leu
NM_001287174.2:c.4582T>C	NP_001274103.1:p.Phe1528Leu
NM_001351295.2:c.4645T>C	NP_001338224.1:p.Phe1549Leu
NM_001351296.2:c.4579T>C	NP_001338225.1:p.Phe1527Leu
NM_001351297.2:c.4576T>C	NP_001338226.1:p.Phe1526Leu
NR_147094.2:n.4874T>C
NM_001287174.3:c.4582T>C	NP_001274103.1:p.Phe1528Leu