Canonical Allele Identifier: CA379805007

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17429979C>A (hg19) ; chr11:g.17408432C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408432C>A , CM000673.2:g.17408432C>A	GRCh38
NC_000011.9:g.17429979C>A , CM000673.1:g.17429979C>A	GRCh37
NC_000011.8:g.17386555C>A	NCBI36
NG_008867.1:g.73471G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2449G>T
ENST00000529967.6:n.1039G>T
ENST00000532220.2:n.512G>T
ENST00000642611.2:n.2849G>T
ENST00000682051.1:n.2796G>T
ENST00000682110.1:n.2849G>T
ENST00000682140.1:c.2777G>T	ENSP00000507829.1:p.Trp926Leu
ENST00000682185.1:n.4085G>T
ENST00000682204.1:c.*918G>T	ENSP00000507094.1:n.*918G>T
ENST00000682215.1:n.2846G>T
ENST00000682288.1:c.*1211G>T	ENSP00000507506.1:n.*1211G>T
ENST00000682442.1:n.2970G>T
ENST00000682528.1:n.2846G>T
ENST00000682673.1:n.2793G>T
ENST00000682805.1:n.2846G>T
ENST00000682965.1:c.2777G>T	ENSP00000508229.1:p.Trp926Leu
ENST00000683093.1:n.2948G>T
ENST00000683136.1:c.2777G>T	ENSP00000507768.1:p.Trp926Leu
ENST00000683153.1:n.3005G>T
ENST00000683365.1:n.2951G>T
ENST00000683377.1:n.2849G>T
ENST00000683456.1:c.2780G>T	ENSP00000508318.1:p.Trp927Leu
ENST00000683522.1:n.2849G>T
ENST00000683562.1:c.*949G>T	ENSP00000508265.1:n.*949G>T
ENST00000683693.1:n.2846G>T
ENST00000683725.1:c.2780G>T	ENSP00000507496.1:p.Trp927Leu
ENST00000684010.1:n.2764G>T
ENST00000684157.1:n.2849G>T
ENST00000684253.1:n.2752G>T
ENST00000684288.1:c.*952G>T	ENSP00000507143.1:n.*952G>T
ENST00000684313.1:n.2281G>T
ENST00000684332.1:n.2922G>T
ENST00000684371.1:n.2955G>T
ENST00000684404.1:n.2846G>T
ENST00000684442.1:n.2849G>T
ENST00000684555.1:c.*992G>T	ENSP00000507705.1:n.*992G>T
ENST00000684571.1:c.2621G>T	ENSP00000506935.1:p.Trp874Leu
ENST00000684593.1:c.*2485G>T	ENSP00000507005.1:n.*2485G>T
ENST00000684711.1:c.*1176G>T	ENSP00000506841.1:n.*1176G>T
ENST00000302539.9:c.2783G>T	ENSP00000303960.4:p.Trp928Leu
ENST00000389817.8:c.2780G>T MANE Select	ENSP00000374467.4:p.Trp927Leu
ENST00000642271.1:c.2777G>T	ENSP00000493749.1:p.Trp926Leu
ENST00000642579.1:c.864G>T
ENST00000642611.1:n.2734G>T
ENST00000642902.1:c.2615G>T
ENST00000643260.1:c.2780G>T	ENSP00000494450.1:p.Trp927Leu
ENST00000643562.1:c.*756G>T	ENSP00000496124.1:n.*756G>T
ENST00000643925.1:c.824G>T
ENST00000644447.1:c.1136G>T	ENSP00000496282.1:p.Trp379Leu
ENST00000644484.1:c.*989G>T	ENSP00000493558.1:n.*989G>T
ENST00000644542.1:c.*2485G>T	ENSP00000495532.1:n.*2485G>T
ENST00000644675.1:c.*952G>T	ENSP00000494567.1:n.*952G>T
ENST00000644757.1:c.*1085G>T	ENSP00000495085.1:n.*1085G>T
ENST00000644772.1:c.2846G>T	ENSP00000494321.1:p.Trp949Leu
ENST00000645076.1:c.2032G>T
ENST00000645744.1:c.*1144G>T	ENSP00000494564.1:n.*1144G>T
ENST00000645760.1:c.3055G>T
ENST00000645884.1:c.2780G>T	ENSP00000495516.1:p.Trp927Leu
ENST00000646003.1:c.*836G>T	ENSP00000495259.1:n.*836G>T
ENST00000646207.1:c.*1144G>T	ENSP00000495025.1:n.*1144G>T
ENST00000646276.1:c.*1053G>T	ENSP00000496070.1:n.*1053G>T
ENST00000646592.1:c.2006G>T
ENST00000646902.1:c.2777G>T	ENSP00000494101.1:p.Trp926Leu
ENST00000646993.1:c.*1176G>T	ENSP00000493720.1:n.*1176G>T
ENST00000647013.1:c.2786G>T	ENSP00000496741.1:n.2786G>T
ENST00000647015.1:c.2531G>T	ENSP00000495389.1:p.Trp844Leu
ENST00000647086.1:c.*2510G>T	ENSP00000493677.1:n.*2510G>T
ENST00000647158.1:c.*921G>T	ENSP00000495744.1:n.*921G>T
ENST00000302539.8:c.2783G>T	ENSP00000303960.4:p.Trp928Leu
ENST00000389817.7:c.2780G>T	ENSP00000374467.3:p.Trp927Leu
ENST00000526921.5:n.464G>T
ENST00000527905.5:c.2750G>T	ENSP00000431653.1:p.Trp917Leu
ENST00000529967.5:n.449G>T
NM_000352.4:c.2780G>T	NP_000343.2:p.Trp927Leu
NM_001287174.1:c.2783G>T	NP_001274103.1:p.Trp928Leu
XM_011520331.1:c.2780G>T	XP_011518633.1:p.Trp927Leu
XM_011520332.1:c.2783G>T	XP_011518634.1:p.Trp928Leu
XM_011520333.1:c.1280G>T	XP_011518635.1:p.Trp427Leu
XM_011520334.1:c.2783G>T	XP_011518636.1:p.Trp928Leu
XR_930890.1:n.2846G>T
XR_930891.1:n.2846G>T
XR_930892.1:n.2846G>T
XR_930893.1:n.2843G>T
NM_001351295.1:c.2846G>T	NP_001338224.1:p.Trp949Leu
NM_001351296.1:c.2780G>T	NP_001338225.1:p.Trp927Leu
NM_001351297.1:c.2777G>T	NP_001338226.1:p.Trp926Leu
NR_147094.1:n.2849G>T
XM_017018197.2:c.2849G>T	XP_016873686.1:p.Trp950Leu
XM_017018199.1:c.2846G>T	XP_016873688.1:p.Trp949Leu
XM_017018201.2:c.2849G>T	XP_016873690.1:p.Trp950Leu
XM_017018202.1:c.1346G>T	XP_016873691.1:p.Trp449Leu
XM_017018204.1:c.737G>T	XP_016873693.1:p.Trp246Leu
XM_024448668.1:c.1148G>T	XP_024304436.1:p.Trp383Leu
XR_001747945.2:n.2921G>T
XR_001747946.2:n.2852G>T
XR_002957189.1:n.2921G>T
NM_000352.6:c.2780G>T MANE Select	NP_000343.2:p.Trp927Leu
NM_001287174.2:c.2783G>T	NP_001274103.1:p.Trp928Leu
NM_001351295.2:c.2846G>T	NP_001338224.1:p.Trp949Leu
NM_001351296.2:c.2780G>T	NP_001338225.1:p.Trp927Leu
NM_001351297.2:c.2777G>T	NP_001338226.1:p.Trp926Leu
NR_147094.2:n.2849G>T
NM_001287174.3:c.2783G>T	NP_001274103.1:p.Trp928Leu