Canonical Allele Identifier: CA379807481

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1489024
• ClinVar RCV Id: RCV001978196 ; RCV003317567
• dbSNP Id: rs1484689392
• gnomAD v4: 11-17412701-G-C
• MyVariant Identifiers: chr11:g.17434248G>C (hg19) ; chr11:g.17412701G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412701G>C , CM000673.2:g.17412701G>C	GRCh38
NC_000011.9:g.17434248G>C , CM000673.1:g.17434248G>C	GRCh37
NC_000011.8:g.17390824G>C	NCBI36
NG_008867.1:g.69202C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2190C>G
ENST00000529967.6:n.780C>G
ENST00000642611.2:n.2590C>G
ENST00000682051.1:n.2537C>G
ENST00000682110.1:n.2590C>G
ENST00000682140.1:c.2518C>G	ENSP00000507829.1:p.Arg840Gly
ENST00000682185.1:n.3826C>G
ENST00000682204.1:c.*659C>G	ENSP00000507094.1:n.*659C>G
ENST00000682215.1:n.2587C>G
ENST00000682288.1:c.*952C>G	ENSP00000507506.1:n.*952C>G
ENST00000682442.1:n.2711C>G
ENST00000682528.1:n.2587C>G
ENST00000682673.1:n.2534C>G
ENST00000682805.1:n.2587C>G
ENST00000682965.1:c.2518C>G	ENSP00000508229.1:p.Arg840Gly
ENST00000683093.1:n.2689C>G
ENST00000683136.1:c.2518C>G	ENSP00000507768.1:p.Arg840Gly
ENST00000683153.1:n.2746C>G
ENST00000683365.1:n.2692C>G
ENST00000683377.1:n.2590C>G
ENST00000683456.1:c.2521C>G	ENSP00000508318.1:p.Arg841Gly
ENST00000683522.1:n.2590C>G
ENST00000683562.1:c.*690C>G	ENSP00000508265.1:n.*690C>G
ENST00000683693.1:n.2587C>G
ENST00000683725.1:c.2521C>G	ENSP00000507496.1:p.Arg841Gly
ENST00000684010.1:n.2505C>G
ENST00000684157.1:n.2590C>G
ENST00000684253.1:n.2493C>G
ENST00000684288.1:c.*693C>G	ENSP00000507143.1:n.*693C>G
ENST00000684313.1:n.2022C>G
ENST00000684332.1:n.2663C>G
ENST00000684371.1:n.2696C>G
ENST00000684404.1:n.2587C>G
ENST00000684442.1:n.2590C>G
ENST00000684555.1:c.*733C>G	ENSP00000507705.1:n.*733C>G
ENST00000684571.1:c.2362C>G	ENSP00000506935.1:p.Arg788Gly
ENST00000684593.1:c.*2226C>G	ENSP00000507005.1:n.*2226C>G
ENST00000684711.1:c.*917C>G	ENSP00000506841.1:n.*917C>G
ENST00000302539.9:c.2524C>G	ENSP00000303960.4:p.Arg842Gly
ENST00000389817.8:c.2521C>G MANE Select	ENSP00000374467.4:p.Arg841Gly
ENST00000642271.1:c.2518C>G	ENSP00000493749.1:p.Arg840Gly
ENST00000642579.1:c.605C>G
ENST00000642611.1:n.2475C>G
ENST00000642902.1:c.2356C>G
ENST00000643260.1:c.2521C>G	ENSP00000494450.1:p.Arg841Gly
ENST00000643562.1:c.*497C>G	ENSP00000496124.1:n.*497C>G
ENST00000643925.1:c.565C>G
ENST00000644447.1:c.877C>G	ENSP00000496282.1:p.Arg293Gly
ENST00000644472.1:c.*882C>G	ENSP00000495378.1:n.*882C>G
ENST00000644484.1:c.*730C>G	ENSP00000493558.1:n.*730C>G
ENST00000644542.1:c.*2226C>G	ENSP00000495532.1:n.*2226C>G
ENST00000644675.1:c.*693C>G	ENSP00000494567.1:n.*693C>G
ENST00000644757.1:c.*826C>G	ENSP00000495085.1:n.*826C>G
ENST00000644772.1:c.2587C>G	ENSP00000494321.1:p.Arg863Gly
ENST00000645076.1:c.1773C>G
ENST00000645744.1:c.*885C>G	ENSP00000494564.1:n.*885C>G
ENST00000645760.1:c.2796C>G
ENST00000645884.1:c.2521C>G	ENSP00000495516.1:p.Arg841Gly
ENST00000646003.1:c.*577C>G	ENSP00000495259.1:n.*577C>G
ENST00000646207.1:c.*885C>G	ENSP00000495025.1:n.*885C>G
ENST00000646276.1:c.*794C>G	ENSP00000496070.1:n.*794C>G
ENST00000646592.1:c.1747C>G
ENST00000646902.1:c.2518C>G	ENSP00000494101.1:p.Arg840Gly
ENST00000646993.1:c.*917C>G	ENSP00000493720.1:n.*917C>G
ENST00000647013.1:c.2527C>G	ENSP00000496741.1:n.2527C>G
ENST00000647015.1:c.2272C>G	ENSP00000495389.1:p.Arg758Gly
ENST00000647086.1:c.*2251C>G	ENSP00000493677.1:n.*2251C>G
ENST00000647158.1:c.*662C>G	ENSP00000495744.1:n.*662C>G
ENST00000302539.8:c.2524C>G	ENSP00000303960.4:p.Arg842Gly
ENST00000389817.7:c.2521C>G	ENSP00000374467.3:p.Arg841Gly
ENST00000526921.5:n.205C>G
ENST00000527905.5:c.2491C>G	ENSP00000431653.1:p.Arg831Gly
ENST00000529967.5:n.190C>G
ENST00000530147.5:n.104C>G
ENST00000531911.1:n.635C>G
NM_000352.4:c.2521C>G	NP_000343.2:p.Arg841Gly
NM_001287174.1:c.2524C>G	NP_001274103.1:p.Arg842Gly
XM_011520331.1:c.2521C>G	XP_011518633.1:p.Arg841Gly
XM_011520332.1:c.2524C>G	XP_011518634.1:p.Arg842Gly
XM_011520333.1:c.1021C>G	XP_011518635.1:p.Arg341Gly
XM_011520334.1:c.2524C>G	XP_011518636.1:p.Arg842Gly
XR_930890.1:n.2587C>G
XR_930891.1:n.2587C>G
XR_930892.1:n.2587C>G
XR_930893.1:n.2584C>G
NM_001351295.1:c.2587C>G	NP_001338224.1:p.Arg863Gly
NM_001351296.1:c.2521C>G	NP_001338225.1:p.Arg841Gly
NM_001351297.1:c.2518C>G	NP_001338226.1:p.Arg840Gly
NR_147094.1:n.2590C>G
XM_017018197.2:c.2590C>G	XP_016873686.1:p.Arg864Gly
XM_017018199.1:c.2587C>G	XP_016873688.1:p.Arg863Gly
XM_017018201.2:c.2590C>G	XP_016873690.1:p.Arg864Gly
XM_017018202.1:c.1087C>G	XP_016873691.1:p.Arg363Gly
XM_017018204.1:c.478C>G	XP_016873693.1:p.Arg160Gly
XM_024448668.1:c.889C>G	XP_024304436.1:p.Arg297Gly
XR_001747945.2:n.2662C>G
XR_001747946.2:n.2593C>G
XR_002957189.1:n.2662C>G
NM_000352.6:c.2521C>G MANE Select	NP_000343.2:p.Arg841Gly
NM_001287174.2:c.2524C>G	NP_001274103.1:p.Arg842Gly
NM_001351295.2:c.2587C>G	NP_001338224.1:p.Arg863Gly
NM_001351296.2:c.2521C>G	NP_001338225.1:p.Arg841Gly
NM_001351297.2:c.2518C>G	NP_001338226.1:p.Arg840Gly
NR_147094.2:n.2590C>G
NM_001287174.3:c.2524C>G	NP_001274103.1:p.Arg842Gly