Canonical Allele Identifier: CA473301290

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434276A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412729A>G , CM000673.2:g.17412729A>G	GRCh38
NC_000011.9:g.17434276A>G , CM000673.1:g.17434276A>G	GRCh37
NC_000011.8:g.17390852A>G	NCBI36
NG_008867.1:g.69174T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2162T>C
ENST00000529967.6:n.752T>C
ENST00000642611.2:n.2562T>C
ENST00000682051.1:n.2509T>C
ENST00000682110.1:n.2562T>C
ENST00000682140.1:c.2490T>C	ENSP00000507829.1:p.Gly830=
ENST00000682185.1:n.3798T>C
ENST00000682204.1:c.*631T>C	ENSP00000507094.1:n.*631T>C
ENST00000682215.1:n.2559T>C
ENST00000682288.1:c.*924T>C	ENSP00000507506.1:n.*924T>C
ENST00000682442.1:n.2683T>C
ENST00000682528.1:n.2559T>C
ENST00000682673.1:n.2506T>C
ENST00000682805.1:n.2559T>C
ENST00000682965.1:c.2490T>C	ENSP00000508229.1:p.Gly830=
ENST00000683093.1:n.2661T>C
ENST00000683136.1:c.2490T>C	ENSP00000507768.1:p.Gly830=
ENST00000683153.1:n.2718T>C
ENST00000683365.1:n.2664T>C
ENST00000683377.1:n.2562T>C
ENST00000683456.1:c.2493T>C	ENSP00000508318.1:p.Gly831=
ENST00000683522.1:n.2562T>C
ENST00000683562.1:c.*662T>C	ENSP00000508265.1:n.*662T>C
ENST00000683693.1:n.2559T>C
ENST00000683725.1:c.2493T>C	ENSP00000507496.1:p.Gly831=
ENST00000684010.1:n.2477T>C
ENST00000684157.1:n.2562T>C
ENST00000684253.1:n.2465T>C
ENST00000684288.1:c.*665T>C	ENSP00000507143.1:n.*665T>C
ENST00000684313.1:n.1994T>C
ENST00000684332.1:n.2635T>C
ENST00000684371.1:n.2668T>C
ENST00000684404.1:n.2559T>C
ENST00000684442.1:n.2562T>C
ENST00000684555.1:c.*705T>C	ENSP00000507705.1:n.*705T>C
ENST00000684571.1:c.2334T>C	ENSP00000506935.1:p.Gly778=
ENST00000684593.1:c.*2198T>C	ENSP00000507005.1:n.*2198T>C
ENST00000684711.1:c.*889T>C	ENSP00000506841.1:n.*889T>C
ENST00000302539.9:c.2496T>C	ENSP00000303960.4:p.Gly832=
ENST00000389817.8:c.2493T>C MANE Select	ENSP00000374467.4:p.Gly831=
ENST00000642271.1:c.2490T>C	ENSP00000493749.1:p.Gly830=
ENST00000642579.1:c.577T>C
ENST00000642611.1:n.2447T>C
ENST00000642902.1:c.2328T>C
ENST00000643260.1:c.2493T>C	ENSP00000494450.1:p.Gly831=
ENST00000643562.1:c.*469T>C	ENSP00000496124.1:n.*469T>C
ENST00000643925.1:c.537T>C
ENST00000644447.1:c.849T>C	ENSP00000496282.1:p.Gly283=
ENST00000644472.1:c.*854T>C	ENSP00000495378.1:n.*854T>C
ENST00000644484.1:c.*702T>C	ENSP00000493558.1:n.*702T>C
ENST00000644542.1:c.*2198T>C	ENSP00000495532.1:n.*2198T>C
ENST00000644675.1:c.*665T>C	ENSP00000494567.1:n.*665T>C
ENST00000644757.1:c.*798T>C	ENSP00000495085.1:n.*798T>C
ENST00000644772.1:c.2559T>C	ENSP00000494321.1:p.Gly853=
ENST00000645076.1:c.1745T>C
ENST00000645744.1:c.*857T>C	ENSP00000494564.1:n.*857T>C
ENST00000645760.1:c.2768T>C
ENST00000645884.1:c.2493T>C	ENSP00000495516.1:p.Gly831=
ENST00000646003.1:c.*549T>C	ENSP00000495259.1:n.*549T>C
ENST00000646207.1:c.*857T>C	ENSP00000495025.1:n.*857T>C
ENST00000646276.1:c.*766T>C	ENSP00000496070.1:n.*766T>C
ENST00000646592.1:c.1719T>C
ENST00000646902.1:c.2490T>C	ENSP00000494101.1:p.Gly830=
ENST00000646993.1:c.*889T>C	ENSP00000493720.1:n.*889T>C
ENST00000647013.1:c.2499T>C	ENSP00000496741.1:n.2499T>C
ENST00000647015.1:c.2244T>C	ENSP00000495389.1:p.Gly748=
ENST00000647086.1:c.*2223T>C	ENSP00000493677.1:n.*2223T>C
ENST00000647158.1:c.*634T>C	ENSP00000495744.1:n.*634T>C
ENST00000302539.8:c.2496T>C	ENSP00000303960.4:p.Gly832=
ENST00000389817.7:c.2493T>C	ENSP00000374467.3:p.Gly831=
ENST00000526921.5:n.177T>C
ENST00000527905.5:c.2463T>C	ENSP00000431653.1:p.Gly821=
ENST00000529967.5:n.162T>C
ENST00000530147.5:n.76T>C
ENST00000531911.1:n.607T>C
NM_000352.4:c.2493T>C	NP_000343.2:p.Gly831=
NM_001287174.1:c.2496T>C	NP_001274103.1:p.Gly832=
XM_011520331.1:c.2493T>C	XP_011518633.1:p.Gly831=
XM_011520332.1:c.2496T>C	XP_011518634.1:p.Gly832=
XM_011520333.1:c.993T>C	XP_011518635.1:p.Gly331=
XM_011520334.1:c.2496T>C	XP_011518636.1:p.Gly832=
XR_930890.1:n.2559T>C
XR_930891.1:n.2559T>C
XR_930892.1:n.2559T>C
XR_930893.1:n.2556T>C
NM_001351295.1:c.2559T>C	NP_001338224.1:p.Gly853=
NM_001351296.1:c.2493T>C	NP_001338225.1:p.Gly831=
NM_001351297.1:c.2490T>C	NP_001338226.1:p.Gly830=
NR_147094.1:n.2562T>C
XM_017018197.2:c.2562T>C	XP_016873686.1:p.Gly854=
XM_017018199.1:c.2559T>C	XP_016873688.1:p.Gly853=
XM_017018201.2:c.2562T>C	XP_016873690.1:p.Gly854=
XM_017018202.1:c.1059T>C	XP_016873691.1:p.Gly353=
XM_017018204.1:c.450T>C	XP_016873693.1:p.Gly150=
XM_024448668.1:c.861T>C	XP_024304436.1:p.Gly287=
XR_001747945.2:n.2634T>C
XR_001747946.2:n.2565T>C
XR_002957189.1:n.2634T>C
NM_000352.6:c.2493T>C MANE Select	NP_000343.2:p.Gly831=
NM_001287174.2:c.2496T>C	NP_001274103.1:p.Gly832=
NM_001351295.2:c.2559T>C	NP_001338224.1:p.Gly853=
NM_001351296.2:c.2493T>C	NP_001338225.1:p.Gly831=
NM_001351297.2:c.2490T>C	NP_001338226.1:p.Gly830=
NR_147094.2:n.2562T>C
NM_001287174.3:c.2496T>C	NP_001274103.1:p.Gly832=