Canonical Allele Identifier: CA473301262

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434252C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412705C>T , CM000673.2:g.17412705C>T	GRCh38
NC_000011.9:g.17434252C>T , CM000673.1:g.17434252C>T	GRCh37
NC_000011.8:g.17390828C>T	NCBI36
NG_008867.1:g.69198G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2186G>A
ENST00000529967.6:n.776G>A
ENST00000642611.2:n.2586G>A
ENST00000682051.1:n.2533G>A
ENST00000682110.1:n.2586G>A
ENST00000682140.1:c.2514G>A	ENSP00000507829.1:p.Val838=
ENST00000682185.1:n.3822G>A
ENST00000682204.1:c.*655G>A	ENSP00000507094.1:n.*655G>A
ENST00000682215.1:n.2583G>A
ENST00000682288.1:c.*948G>A	ENSP00000507506.1:n.*948G>A
ENST00000682442.1:n.2707G>A
ENST00000682528.1:n.2583G>A
ENST00000682673.1:n.2530G>A
ENST00000682805.1:n.2583G>A
ENST00000682965.1:c.2514G>A	ENSP00000508229.1:p.Val838=
ENST00000683093.1:n.2685G>A
ENST00000683136.1:c.2514G>A	ENSP00000507768.1:p.Val838=
ENST00000683153.1:n.2742G>A
ENST00000683365.1:n.2688G>A
ENST00000683377.1:n.2586G>A
ENST00000683456.1:c.2517G>A	ENSP00000508318.1:p.Val839=
ENST00000683522.1:n.2586G>A
ENST00000683562.1:c.*686G>A	ENSP00000508265.1:n.*686G>A
ENST00000683693.1:n.2583G>A
ENST00000683725.1:c.2517G>A	ENSP00000507496.1:p.Val839=
ENST00000684010.1:n.2501G>A
ENST00000684157.1:n.2586G>A
ENST00000684253.1:n.2489G>A
ENST00000684288.1:c.*689G>A	ENSP00000507143.1:n.*689G>A
ENST00000684313.1:n.2018G>A
ENST00000684332.1:n.2659G>A
ENST00000684371.1:n.2692G>A
ENST00000684404.1:n.2583G>A
ENST00000684442.1:n.2586G>A
ENST00000684555.1:c.*729G>A	ENSP00000507705.1:n.*729G>A
ENST00000684571.1:c.2358G>A	ENSP00000506935.1:p.Val786=
ENST00000684593.1:c.*2222G>A	ENSP00000507005.1:n.*2222G>A
ENST00000684711.1:c.*913G>A	ENSP00000506841.1:n.*913G>A
ENST00000302539.9:c.2520G>A	ENSP00000303960.4:p.Val840=
ENST00000389817.8:c.2517G>A MANE Select	ENSP00000374467.4:p.Val839=
ENST00000642271.1:c.2514G>A	ENSP00000493749.1:p.Val838=
ENST00000642579.1:c.601G>A
ENST00000642611.1:n.2471G>A
ENST00000642902.1:c.2352G>A
ENST00000643260.1:c.2517G>A	ENSP00000494450.1:p.Val839=
ENST00000643562.1:c.*493G>A	ENSP00000496124.1:n.*493G>A
ENST00000643925.1:c.561G>A
ENST00000644447.1:c.873G>A	ENSP00000496282.1:p.Val291=
ENST00000644472.1:c.*878G>A	ENSP00000495378.1:n.*878G>A
ENST00000644484.1:c.*726G>A	ENSP00000493558.1:n.*726G>A
ENST00000644542.1:c.*2222G>A	ENSP00000495532.1:n.*2222G>A
ENST00000644675.1:c.*689G>A	ENSP00000494567.1:n.*689G>A
ENST00000644757.1:c.*822G>A	ENSP00000495085.1:n.*822G>A
ENST00000644772.1:c.2583G>A	ENSP00000494321.1:p.Val861=
ENST00000645076.1:c.1769G>A
ENST00000645744.1:c.*881G>A	ENSP00000494564.1:n.*881G>A
ENST00000645760.1:c.2792G>A
ENST00000645884.1:c.2517G>A	ENSP00000495516.1:p.Val839=
ENST00000646003.1:c.*573G>A	ENSP00000495259.1:n.*573G>A
ENST00000646207.1:c.*881G>A	ENSP00000495025.1:n.*881G>A
ENST00000646276.1:c.*790G>A	ENSP00000496070.1:n.*790G>A
ENST00000646592.1:c.1743G>A
ENST00000646902.1:c.2514G>A	ENSP00000494101.1:p.Val838=
ENST00000646993.1:c.*913G>A	ENSP00000493720.1:n.*913G>A
ENST00000647013.1:c.2523G>A	ENSP00000496741.1:n.2523G>A
ENST00000647015.1:c.2268G>A	ENSP00000495389.1:p.Val756=
ENST00000647086.1:c.*2247G>A	ENSP00000493677.1:n.*2247G>A
ENST00000647158.1:c.*658G>A	ENSP00000495744.1:n.*658G>A
ENST00000302539.8:c.2520G>A	ENSP00000303960.4:p.Val840=
ENST00000389817.7:c.2517G>A	ENSP00000374467.3:p.Val839=
ENST00000526921.5:n.201G>A
ENST00000527905.5:c.2487G>A	ENSP00000431653.1:p.Val829=
ENST00000529967.5:n.186G>A
ENST00000530147.5:n.100G>A
ENST00000531911.1:n.631G>A
NM_000352.4:c.2517G>A	NP_000343.2:p.Val839=
NM_001287174.1:c.2520G>A	NP_001274103.1:p.Val840=
XM_011520331.1:c.2517G>A	XP_011518633.1:p.Val839=
XM_011520332.1:c.2520G>A	XP_011518634.1:p.Val840=
XM_011520333.1:c.1017G>A	XP_011518635.1:p.Val339=
XM_011520334.1:c.2520G>A	XP_011518636.1:p.Val840=
XR_930890.1:n.2583G>A
XR_930891.1:n.2583G>A
XR_930892.1:n.2583G>A
XR_930893.1:n.2580G>A
NM_001351295.1:c.2583G>A	NP_001338224.1:p.Val861=
NM_001351296.1:c.2517G>A	NP_001338225.1:p.Val839=
NM_001351297.1:c.2514G>A	NP_001338226.1:p.Val838=
NR_147094.1:n.2586G>A
XM_017018197.2:c.2586G>A	XP_016873686.1:p.Val862=
XM_017018199.1:c.2583G>A	XP_016873688.1:p.Val861=
XM_017018201.2:c.2586G>A	XP_016873690.1:p.Val862=
XM_017018202.1:c.1083G>A	XP_016873691.1:p.Val361=
XM_017018204.1:c.474G>A	XP_016873693.1:p.Val158=
XM_024448668.1:c.885G>A	XP_024304436.1:p.Val295=
XR_001747945.2:n.2658G>A
XR_001747946.2:n.2589G>A
XR_002957189.1:n.2658G>A
NM_000352.6:c.2517G>A MANE Select	NP_000343.2:p.Val839=
NM_001287174.2:c.2520G>A	NP_001274103.1:p.Val840=
NM_001351295.2:c.2583G>A	NP_001338224.1:p.Val861=
NM_001351296.2:c.2517G>A	NP_001338225.1:p.Val839=
NM_001351297.2:c.2514G>A	NP_001338226.1:p.Val838=
NR_147094.2:n.2586G>A
NM_001287174.3:c.2520G>A	NP_001274103.1:p.Val840=