Canonical Allele Identifier: CA379807541

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434260T>C (hg19) ; chr11:g.17412713T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412713T>C , CM000673.2:g.17412713T>C	GRCh38
NC_000011.9:g.17434260T>C , CM000673.1:g.17434260T>C	GRCh37
NC_000011.8:g.17390836T>C	NCBI36
NG_008867.1:g.69190A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2178A>G
ENST00000529967.6:n.768A>G
ENST00000642611.2:n.2578A>G
ENST00000682051.1:n.2525A>G
ENST00000682110.1:n.2578A>G
ENST00000682140.1:c.2506A>G	ENSP00000507829.1:p.Ile836Val
ENST00000682185.1:n.3814A>G
ENST00000682204.1:c.*647A>G	ENSP00000507094.1:n.*647A>G
ENST00000682215.1:n.2575A>G
ENST00000682288.1:c.*940A>G	ENSP00000507506.1:n.*940A>G
ENST00000682442.1:n.2699A>G
ENST00000682528.1:n.2575A>G
ENST00000682673.1:n.2522A>G
ENST00000682805.1:n.2575A>G
ENST00000682965.1:c.2506A>G	ENSP00000508229.1:p.Ile836Val
ENST00000683093.1:n.2677A>G
ENST00000683136.1:c.2506A>G	ENSP00000507768.1:p.Ile836Val
ENST00000683153.1:n.2734A>G
ENST00000683365.1:n.2680A>G
ENST00000683377.1:n.2578A>G
ENST00000683456.1:c.2509A>G	ENSP00000508318.1:p.Ile837Val
ENST00000683522.1:n.2578A>G
ENST00000683562.1:c.*678A>G	ENSP00000508265.1:n.*678A>G
ENST00000683693.1:n.2575A>G
ENST00000683725.1:c.2509A>G	ENSP00000507496.1:p.Ile837Val
ENST00000684010.1:n.2493A>G
ENST00000684157.1:n.2578A>G
ENST00000684253.1:n.2481A>G
ENST00000684288.1:c.*681A>G	ENSP00000507143.1:n.*681A>G
ENST00000684313.1:n.2010A>G
ENST00000684332.1:n.2651A>G
ENST00000684371.1:n.2684A>G
ENST00000684404.1:n.2575A>G
ENST00000684442.1:n.2578A>G
ENST00000684555.1:c.*721A>G	ENSP00000507705.1:n.*721A>G
ENST00000684571.1:c.2350A>G	ENSP00000506935.1:p.Ile784Val
ENST00000684593.1:c.*2214A>G	ENSP00000507005.1:n.*2214A>G
ENST00000684711.1:c.*905A>G	ENSP00000506841.1:n.*905A>G
ENST00000302539.9:c.2512A>G	ENSP00000303960.4:p.Ile838Val
ENST00000389817.8:c.2509A>G MANE Select	ENSP00000374467.4:p.Ile837Val
ENST00000642271.1:c.2506A>G	ENSP00000493749.1:p.Ile836Val
ENST00000642579.1:c.593A>G
ENST00000642611.1:n.2463A>G
ENST00000642902.1:c.2344A>G
ENST00000643260.1:c.2509A>G	ENSP00000494450.1:p.Ile837Val
ENST00000643562.1:c.*485A>G	ENSP00000496124.1:n.*485A>G
ENST00000643925.1:c.553A>G
ENST00000644447.1:c.865A>G	ENSP00000496282.1:p.Ile289Val
ENST00000644472.1:c.*870A>G	ENSP00000495378.1:n.*870A>G
ENST00000644484.1:c.*718A>G	ENSP00000493558.1:n.*718A>G
ENST00000644542.1:c.*2214A>G	ENSP00000495532.1:n.*2214A>G
ENST00000644675.1:c.*681A>G	ENSP00000494567.1:n.*681A>G
ENST00000644757.1:c.*814A>G	ENSP00000495085.1:n.*814A>G
ENST00000644772.1:c.2575A>G	ENSP00000494321.1:p.Ile859Val
ENST00000645076.1:c.1761A>G
ENST00000645744.1:c.*873A>G	ENSP00000494564.1:n.*873A>G
ENST00000645760.1:c.2784A>G
ENST00000645884.1:c.2509A>G	ENSP00000495516.1:p.Ile837Val
ENST00000646003.1:c.*565A>G	ENSP00000495259.1:n.*565A>G
ENST00000646207.1:c.*873A>G	ENSP00000495025.1:n.*873A>G
ENST00000646276.1:c.*782A>G	ENSP00000496070.1:n.*782A>G
ENST00000646592.1:c.1735A>G
ENST00000646902.1:c.2506A>G	ENSP00000494101.1:p.Ile836Val
ENST00000646993.1:c.*905A>G	ENSP00000493720.1:n.*905A>G
ENST00000647013.1:c.2515A>G	ENSP00000496741.1:n.2515A>G
ENST00000647015.1:c.2260A>G	ENSP00000495389.1:p.Ile754Val
ENST00000647086.1:c.*2239A>G	ENSP00000493677.1:n.*2239A>G
ENST00000647158.1:c.*650A>G	ENSP00000495744.1:n.*650A>G
ENST00000302539.8:c.2512A>G	ENSP00000303960.4:p.Ile838Val
ENST00000389817.7:c.2509A>G	ENSP00000374467.3:p.Ile837Val
ENST00000526921.5:n.193A>G
ENST00000527905.5:c.2479A>G	ENSP00000431653.1:p.Ile827Val
ENST00000529967.5:n.178A>G
ENST00000530147.5:n.92A>G
ENST00000531911.1:n.623A>G
NM_000352.4:c.2509A>G	NP_000343.2:p.Ile837Val
NM_001287174.1:c.2512A>G	NP_001274103.1:p.Ile838Val
XM_011520331.1:c.2509A>G	XP_011518633.1:p.Ile837Val
XM_011520332.1:c.2512A>G	XP_011518634.1:p.Ile838Val
XM_011520333.1:c.1009A>G	XP_011518635.1:p.Ile337Val
XM_011520334.1:c.2512A>G	XP_011518636.1:p.Ile838Val
XR_930890.1:n.2575A>G
XR_930891.1:n.2575A>G
XR_930892.1:n.2575A>G
XR_930893.1:n.2572A>G
NM_001351295.1:c.2575A>G	NP_001338224.1:p.Ile859Val
NM_001351296.1:c.2509A>G	NP_001338225.1:p.Ile837Val
NM_001351297.1:c.2506A>G	NP_001338226.1:p.Ile836Val
NR_147094.1:n.2578A>G
XM_017018197.2:c.2578A>G	XP_016873686.1:p.Ile860Val
XM_017018199.1:c.2575A>G	XP_016873688.1:p.Ile859Val
XM_017018201.2:c.2578A>G	XP_016873690.1:p.Ile860Val
XM_017018202.1:c.1075A>G	XP_016873691.1:p.Ile359Val
XM_017018204.1:c.466A>G	XP_016873693.1:p.Ile156Val
XM_024448668.1:c.877A>G	XP_024304436.1:p.Ile293Val
XR_001747945.2:n.2650A>G
XR_001747946.2:n.2581A>G
XR_002957189.1:n.2650A>G
NM_000352.6:c.2509A>G MANE Select	NP_000343.2:p.Ile837Val
NM_001287174.2:c.2512A>G	NP_001274103.1:p.Ile838Val
NM_001351295.2:c.2575A>G	NP_001338224.1:p.Ile859Val
NM_001351296.2:c.2509A>G	NP_001338225.1:p.Ile837Val
NM_001351297.2:c.2506A>G	NP_001338226.1:p.Ile836Val
NR_147094.2:n.2578A>G
NM_001287174.3:c.2512A>G	NP_001274103.1:p.Ile838Val