Canonical Allele Identifier: CA473301295

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1668102
• ClinVar RCV Id: RCV002195909
• dbSNP Id: rs1348144308
• gnomAD v3: 11-17412732-A-G
• gnomAD v4: 11-17412732-A-G
• MyVariant Identifiers: chr11:g.17434279A>G (hg19) ; chr11:g.17412732A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412732A>G , CM000673.2:g.17412732A>G	GRCh38
NC_000011.9:g.17434279A>G , CM000673.1:g.17434279A>G	GRCh37
NC_000011.8:g.17390855A>G	NCBI36
NG_008867.1:g.69171T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2159T>C
ENST00000529967.6:n.749T>C
ENST00000642611.2:n.2559T>C
ENST00000682051.1:n.2506T>C
ENST00000682110.1:n.2559T>C
ENST00000682140.1:c.2487T>C	ENSP00000507829.1:p.Ser829=
ENST00000682185.1:n.3795T>C
ENST00000682204.1:c.*628T>C	ENSP00000507094.1:n.*628T>C
ENST00000682215.1:n.2556T>C
ENST00000682288.1:c.*921T>C	ENSP00000507506.1:n.*921T>C
ENST00000682442.1:n.2680T>C
ENST00000682528.1:n.2556T>C
ENST00000682673.1:n.2503T>C
ENST00000682805.1:n.2556T>C
ENST00000682965.1:c.2487T>C	ENSP00000508229.1:p.Ser829=
ENST00000683093.1:n.2658T>C
ENST00000683136.1:c.2487T>C	ENSP00000507768.1:p.Ser829=
ENST00000683153.1:n.2715T>C
ENST00000683365.1:n.2661T>C
ENST00000683377.1:n.2559T>C
ENST00000683456.1:c.2490T>C	ENSP00000508318.1:p.Ser830=
ENST00000683522.1:n.2559T>C
ENST00000683562.1:c.*659T>C	ENSP00000508265.1:n.*659T>C
ENST00000683693.1:n.2556T>C
ENST00000683725.1:c.2490T>C	ENSP00000507496.1:p.Ser830=
ENST00000684010.1:n.2474T>C
ENST00000684157.1:n.2559T>C
ENST00000684253.1:n.2462T>C
ENST00000684288.1:c.*662T>C	ENSP00000507143.1:n.*662T>C
ENST00000684313.1:n.1991T>C
ENST00000684332.1:n.2632T>C
ENST00000684371.1:n.2665T>C
ENST00000684404.1:n.2556T>C
ENST00000684442.1:n.2559T>C
ENST00000684555.1:c.*702T>C	ENSP00000507705.1:n.*702T>C
ENST00000684571.1:c.2331T>C	ENSP00000506935.1:p.Ser777=
ENST00000684593.1:c.*2195T>C	ENSP00000507005.1:n.*2195T>C
ENST00000684711.1:c.*886T>C	ENSP00000506841.1:n.*886T>C
ENST00000302539.9:c.2493T>C	ENSP00000303960.4:p.Ser831=
ENST00000389817.8:c.2490T>C MANE Select	ENSP00000374467.4:p.Ser830=
ENST00000642271.1:c.2487T>C	ENSP00000493749.1:p.Ser829=
ENST00000642579.1:c.574T>C
ENST00000642611.1:n.2444T>C
ENST00000642902.1:c.2325T>C
ENST00000643260.1:c.2490T>C	ENSP00000494450.1:p.Ser830=
ENST00000643562.1:c.*466T>C	ENSP00000496124.1:n.*466T>C
ENST00000643925.1:c.534T>C
ENST00000644447.1:c.846T>C	ENSP00000496282.1:p.Ser282=
ENST00000644472.1:c.*851T>C	ENSP00000495378.1:n.*851T>C
ENST00000644484.1:c.*699T>C	ENSP00000493558.1:n.*699T>C
ENST00000644542.1:c.*2195T>C	ENSP00000495532.1:n.*2195T>C
ENST00000644675.1:c.*662T>C	ENSP00000494567.1:n.*662T>C
ENST00000644757.1:c.*795T>C	ENSP00000495085.1:n.*795T>C
ENST00000644772.1:c.2556T>C	ENSP00000494321.1:p.Ser852=
ENST00000645076.1:c.1742T>C
ENST00000645744.1:c.*854T>C	ENSP00000494564.1:n.*854T>C
ENST00000645760.1:c.2765T>C
ENST00000645884.1:c.2490T>C	ENSP00000495516.1:p.Ser830=
ENST00000646003.1:c.*546T>C	ENSP00000495259.1:n.*546T>C
ENST00000646207.1:c.*854T>C	ENSP00000495025.1:n.*854T>C
ENST00000646276.1:c.*763T>C	ENSP00000496070.1:n.*763T>C
ENST00000646592.1:c.1716T>C
ENST00000646902.1:c.2487T>C	ENSP00000494101.1:p.Ser829=
ENST00000646993.1:c.*886T>C	ENSP00000493720.1:n.*886T>C
ENST00000647013.1:c.2496T>C	ENSP00000496741.1:n.2496T>C
ENST00000647015.1:c.2241T>C	ENSP00000495389.1:p.Ser747=
ENST00000647086.1:c.*2220T>C	ENSP00000493677.1:n.*2220T>C
ENST00000647158.1:c.*631T>C	ENSP00000495744.1:n.*631T>C
ENST00000302539.8:c.2493T>C	ENSP00000303960.4:p.Ser831=
ENST00000389817.7:c.2490T>C	ENSP00000374467.3:p.Ser830=
ENST00000526921.5:n.174T>C
ENST00000527905.5:c.2460T>C	ENSP00000431653.1:p.Ser820=
ENST00000529967.5:n.159T>C
ENST00000530147.5:n.73T>C
ENST00000531911.1:n.604T>C
NM_000352.4:c.2490T>C	NP_000343.2:p.Ser830=
NM_001287174.1:c.2493T>C	NP_001274103.1:p.Ser831=
XM_011520331.1:c.2490T>C	XP_011518633.1:p.Ser830=
XM_011520332.1:c.2493T>C	XP_011518634.1:p.Ser831=
XM_011520333.1:c.990T>C	XP_011518635.1:p.Ser330=
XM_011520334.1:c.2493T>C	XP_011518636.1:p.Ser831=
XR_930890.1:n.2556T>C
XR_930891.1:n.2556T>C
XR_930892.1:n.2556T>C
XR_930893.1:n.2553T>C
NM_001351295.1:c.2556T>C	NP_001338224.1:p.Ser852=
NM_001351296.1:c.2490T>C	NP_001338225.1:p.Ser830=
NM_001351297.1:c.2487T>C	NP_001338226.1:p.Ser829=
NR_147094.1:n.2559T>C
XM_017018197.2:c.2559T>C	XP_016873686.1:p.Ser853=
XM_017018199.1:c.2556T>C	XP_016873688.1:p.Ser852=
XM_017018201.2:c.2559T>C	XP_016873690.1:p.Ser853=
XM_017018202.1:c.1056T>C	XP_016873691.1:p.Ser352=
XM_017018204.1:c.447T>C	XP_016873693.1:p.Ser149=
XM_024448668.1:c.858T>C	XP_024304436.1:p.Ser286=
XR_001747945.2:n.2631T>C
XR_001747946.2:n.2562T>C
XR_002957189.1:n.2631T>C
NM_000352.6:c.2490T>C MANE Select	NP_000343.2:p.Ser830=
NM_001287174.2:c.2493T>C	NP_001274103.1:p.Ser831=
NM_001351295.2:c.2556T>C	NP_001338224.1:p.Ser852=
NM_001351296.2:c.2490T>C	NP_001338225.1:p.Ser830=
NM_001351297.2:c.2487T>C	NP_001338226.1:p.Ser829=
NR_147094.2:n.2559T>C
NM_001287174.3:c.2493T>C	NP_001274103.1:p.Ser831=