Canonical Allele Identifier: CA379807409

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17412686-G-A
• MyVariant Identifiers: chr11:g.17434233G>A (hg19) ; chr11:g.17412686G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412686G>A , CM000673.2:g.17412686G>A	GRCh38
NC_000011.9:g.17434233G>A , CM000673.1:g.17434233G>A	GRCh37
NC_000011.8:g.17390809G>A	NCBI36
NG_008867.1:g.69217C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2205C>T
ENST00000529967.6:n.795C>T
ENST00000642611.2:n.2605C>T
ENST00000682051.1:n.2552C>T
ENST00000682110.1:n.2605C>T
ENST00000682140.1:c.2533C>T	ENSP00000507829.1:p.His845Tyr
ENST00000682185.1:n.3841C>T
ENST00000682204.1:c.*674C>T	ENSP00000507094.1:n.*674C>T
ENST00000682215.1:n.2602C>T
ENST00000682288.1:c.*967C>T	ENSP00000507506.1:n.*967C>T
ENST00000682442.1:n.2726C>T
ENST00000682528.1:n.2602C>T
ENST00000682673.1:n.2549C>T
ENST00000682805.1:n.2602C>T
ENST00000682965.1:c.2533C>T	ENSP00000508229.1:p.His845Tyr
ENST00000683093.1:n.2704C>T
ENST00000683136.1:c.2533C>T	ENSP00000507768.1:p.His845Tyr
ENST00000683153.1:n.2761C>T
ENST00000683365.1:n.2707C>T
ENST00000683377.1:n.2605C>T
ENST00000683456.1:c.2536C>T	ENSP00000508318.1:p.His846Tyr
ENST00000683522.1:n.2605C>T
ENST00000683562.1:c.*705C>T	ENSP00000508265.1:n.*705C>T
ENST00000683693.1:n.2602C>T
ENST00000683725.1:c.2536C>T	ENSP00000507496.1:p.His846Tyr
ENST00000684010.1:n.2520C>T
ENST00000684157.1:n.2605C>T
ENST00000684253.1:n.2508C>T
ENST00000684288.1:c.*708C>T	ENSP00000507143.1:n.*708C>T
ENST00000684313.1:n.2037C>T
ENST00000684332.1:n.2678C>T
ENST00000684371.1:n.2711C>T
ENST00000684404.1:n.2602C>T
ENST00000684442.1:n.2605C>T
ENST00000684555.1:c.*748C>T	ENSP00000507705.1:n.*748C>T
ENST00000684571.1:c.2377C>T	ENSP00000506935.1:p.His793Tyr
ENST00000684593.1:c.*2241C>T	ENSP00000507005.1:n.*2241C>T
ENST00000684711.1:c.*932C>T	ENSP00000506841.1:n.*932C>T
ENST00000302539.9:c.2539C>T	ENSP00000303960.4:p.His847Tyr
ENST00000389817.8:c.2536C>T MANE Select	ENSP00000374467.4:p.His846Tyr
ENST00000642271.1:c.2533C>T	ENSP00000493749.1:p.His845Tyr
ENST00000642579.1:c.620C>T
ENST00000642611.1:n.2490C>T
ENST00000642902.1:c.2371C>T
ENST00000643260.1:c.2536C>T	ENSP00000494450.1:p.His846Tyr
ENST00000643562.1:c.*512C>T	ENSP00000496124.1:n.*512C>T
ENST00000643925.1:c.580C>T
ENST00000644447.1:c.892C>T	ENSP00000496282.1:p.His298Tyr
ENST00000644472.1:c.*897C>T	ENSP00000495378.1:n.*897C>T
ENST00000644484.1:c.*745C>T	ENSP00000493558.1:n.*745C>T
ENST00000644542.1:c.*2241C>T	ENSP00000495532.1:n.*2241C>T
ENST00000644675.1:c.*708C>T	ENSP00000494567.1:n.*708C>T
ENST00000644757.1:c.*841C>T	ENSP00000495085.1:n.*841C>T
ENST00000644772.1:c.2602C>T	ENSP00000494321.1:p.His868Tyr
ENST00000645076.1:c.1788C>T
ENST00000645744.1:c.*900C>T	ENSP00000494564.1:n.*900C>T
ENST00000645760.1:c.2811C>T
ENST00000645884.1:c.2536C>T	ENSP00000495516.1:p.His846Tyr
ENST00000646003.1:c.*592C>T	ENSP00000495259.1:n.*592C>T
ENST00000646207.1:c.*900C>T	ENSP00000495025.1:n.*900C>T
ENST00000646276.1:c.*809C>T	ENSP00000496070.1:n.*809C>T
ENST00000646592.1:c.1762C>T
ENST00000646902.1:c.2533C>T	ENSP00000494101.1:p.His845Tyr
ENST00000646993.1:c.*932C>T	ENSP00000493720.1:n.*932C>T
ENST00000647013.1:c.2542C>T	ENSP00000496741.1:n.2542C>T
ENST00000647015.1:c.2287C>T	ENSP00000495389.1:p.His763Tyr
ENST00000647086.1:c.*2266C>T	ENSP00000493677.1:n.*2266C>T
ENST00000647158.1:c.*677C>T	ENSP00000495744.1:n.*677C>T
ENST00000302539.8:c.2539C>T	ENSP00000303960.4:p.His847Tyr
ENST00000389817.7:c.2536C>T	ENSP00000374467.3:p.His846Tyr
ENST00000526921.5:n.220C>T
ENST00000527905.5:c.2506C>T	ENSP00000431653.1:p.His836Tyr
ENST00000529967.5:n.205C>T
ENST00000530147.5:n.119C>T
ENST00000531911.1:n.650C>T
NM_000352.4:c.2536C>T	NP_000343.2:p.His846Tyr
NM_001287174.1:c.2539C>T	NP_001274103.1:p.His847Tyr
XM_011520331.1:c.2536C>T	XP_011518633.1:p.His846Tyr
XM_011520332.1:c.2539C>T	XP_011518634.1:p.His847Tyr
XM_011520333.1:c.1036C>T	XP_011518635.1:p.His346Tyr
XM_011520334.1:c.2539C>T	XP_011518636.1:p.His847Tyr
XR_930890.1:n.2602C>T
XR_930891.1:n.2602C>T
XR_930892.1:n.2602C>T
XR_930893.1:n.2599C>T
NM_001351295.1:c.2602C>T	NP_001338224.1:p.His868Tyr
NM_001351296.1:c.2536C>T	NP_001338225.1:p.His846Tyr
NM_001351297.1:c.2533C>T	NP_001338226.1:p.His845Tyr
NR_147094.1:n.2605C>T
XM_017018197.2:c.2605C>T	XP_016873686.1:p.His869Tyr
XM_017018199.1:c.2602C>T	XP_016873688.1:p.His868Tyr
XM_017018201.2:c.2605C>T	XP_016873690.1:p.His869Tyr
XM_017018202.1:c.1102C>T	XP_016873691.1:p.His368Tyr
XM_017018204.1:c.493C>T	XP_016873693.1:p.His165Tyr
XM_024448668.1:c.904C>T	XP_024304436.1:p.His302Tyr
XR_001747945.2:n.2677C>T
XR_001747946.2:n.2608C>T
XR_002957189.1:n.2677C>T
NM_000352.6:c.2536C>T MANE Select	NP_000343.2:p.His846Tyr
NM_001287174.2:c.2539C>T	NP_001274103.1:p.His847Tyr
NM_001351295.2:c.2602C>T	NP_001338224.1:p.His868Tyr
NM_001351296.2:c.2536C>T	NP_001338225.1:p.His846Tyr
NM_001351297.2:c.2533C>T	NP_001338226.1:p.His845Tyr
NR_147094.2:n.2605C>T
NM_001287174.3:c.2539C>T	NP_001274103.1:p.His847Tyr