Canonical Allele Identifier: CA379787397

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1311162
• ClinVar RCV Id: RCV001758671
• dbSNP Id: rs2133401418
• gnomAD v4: 11-17395709-A-G
• MyVariant Identifiers: chr11:g.17417256A>G (hg19) ; chr11:g.17395709A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395709A>G , CM000673.2:g.17395709A>G	GRCh38
NC_000011.9:g.17417256A>G , CM000673.1:g.17417256A>G	GRCh37
NC_000011.8:g.17373832A>G	NCBI36
NG_008867.1:g.86194T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3809T>C
ENST00000528374.2:c.799T>C
ENST00000529967.6:n.2547T>C
ENST00000532220.2:n.3441T>C
ENST00000642611.2:n.5541T>C
ENST00000644057.2:n.784T>C
ENST00000645004.2:n.1707T>C
ENST00000682051.1:n.4370T>C
ENST00000682110.1:n.4423T>C
ENST00000682140.1:c.4074T>C	ENSP00000507829.1:p.His1358=
ENST00000682185.1:n.5513T>C
ENST00000682204.1:c.*2346T>C	ENSP00000507094.1:n.*2346T>C
ENST00000682215.1:n.4790T>C
ENST00000682288.1:c.*2639T>C	ENSP00000507506.1:n.*2639T>C
ENST00000682442.1:n.4643T>C
ENST00000682528.1:n.4500T>C
ENST00000682673.1:n.4367T>C
ENST00000682805.1:n.4828T>C
ENST00000682965.1:c.*630T>C	ENSP00000508229.1:n.*630T>C
ENST00000683093.1:n.5507T>C
ENST00000683136.1:c.4091T>C	ENSP00000507768.1:p.Ile1364Thr
ENST00000683153.1:n.4465T>C
ENST00000683365.1:n.4525T>C
ENST00000683377.1:n.4423T>C
ENST00000683456.1:c.*1345T>C	ENSP00000508318.1:n.*1345T>C
ENST00000683522.1:n.4423T>C
ENST00000683562.1:c.*2377T>C	ENSP00000508265.1:n.*2377T>C
ENST00000683693.1:n.5988T>C
ENST00000683725.1:c.4208T>C	ENSP00000507496.1:p.Ile1403Thr
ENST00000684010.1:n.4418T>C
ENST00000684157.1:n.5408T>C
ENST00000684253.1:n.4326T>C
ENST00000684288.1:c.*2380T>C	ENSP00000507143.1:n.*2380T>C
ENST00000684313.1:n.3855T>C
ENST00000684332.1:n.4496T>C
ENST00000684371.1:n.4529T>C
ENST00000684404.1:n.5451T>C
ENST00000684442.1:n.4647T>C
ENST00000684555.1:c.*2420T>C	ENSP00000507705.1:n.*2420T>C
ENST00000684571.1:c.4049T>C	ENSP00000506935.1:p.Ile1350Thr
ENST00000684593.1:c.*3913T>C	ENSP00000507005.1:n.*3913T>C
ENST00000684711.1:c.*2604T>C	ENSP00000506841.1:n.*2604T>C
ENST00000302539.9:c.4211T>C	ENSP00000303960.4:p.Ile1404Thr
ENST00000389817.8:c.4208T>C MANE Select	ENSP00000374467.4:p.Ile1403Thr
ENST00000642271.1:c.4205T>C	ENSP00000493749.1:p.Ile1402Thr
ENST00000642579.1:c.2262T>C
ENST00000642611.1:n.5426T>C
ENST00000642902.1:c.3990T>C
ENST00000643260.1:c.4208T>C	ENSP00000494450.1:p.Ile1403Thr
ENST00000643562.1:c.*2330T>C	ENSP00000496124.1:n.*2330T>C
ENST00000643925.1:c.2848T>C
ENST00000644057.1:n.285T>C
ENST00000644484.1:c.*3594T>C	ENSP00000493558.1:n.*3594T>C
ENST00000644675.1:c.*2380T>C	ENSP00000494567.1:n.*2380T>C
ENST00000644757.1:c.*3202+555T>C	ENSP00000495085.1:n.*3202+555T>C
ENST00000644772.1:c.4274T>C	ENSP00000494321.1:p.Ile1425Thr
ENST00000645004.1:n.1901T>C
ENST00000645076.1:c.3407T>C
ENST00000645417.1:c.1396T>C
ENST00000645744.1:c.*3964-71T>C	ENSP00000494564.1:n.*3964-71T>C
ENST00000645760.1:c.4629T>C
ENST00000645884.1:c.*1491T>C	ENSP00000495516.1:n.*1491T>C
ENST00000646003.1:c.*2301-71T>C	ENSP00000495259.1:n.*2301-71T>C
ENST00000646207.1:c.*3045T>C	ENSP00000495025.1:n.*3045T>C
ENST00000646276.1:c.*3612T>C	ENSP00000496070.1:n.*3612T>C
ENST00000646592.1:c.3514T>C
ENST00000646902.1:c.4175T>C	ENSP00000494101.1:p.Ile1392Thr
ENST00000646993.1:c.*2750T>C	ENSP00000493720.1:n.*2750T>C
ENST00000647013.1:c.4214T>C	ENSP00000496741.1:n.4214T>C
ENST00000647015.1:c.3959T>C	ENSP00000495389.1:p.Ile1320Thr
ENST00000647086.1:c.*3794T>C	ENSP00000493677.1:n.*3794T>C
ENST00000647158.1:c.*2495T>C	ENSP00000495744.1:n.*2495T>C
ENST00000302539.8:c.4211T>C	ENSP00000303960.4:p.Ile1404Thr
ENST00000389817.7:c.4208T>C	ENSP00000374467.3:p.Ile1403Thr
ENST00000525022.1:n.207T>C
ENST00000526037.5:n.72T>C
ENST00000526168.5:c.67-71T>C
ENST00000531642.5:c.44T>C
NM_000352.4:c.4208T>C	NP_000343.2:p.Ile1403Thr
NM_001287174.1:c.4211T>C	NP_001274103.1:p.Ile1404Thr
XM_011520331.1:c.4208T>C	XP_011518633.1:p.Ile1403Thr
XM_011520332.1:c.4211T>C	XP_011518634.1:p.Ile1404Thr
XM_011520333.1:c.2708T>C	XP_011518635.1:p.Ile903Thr
XR_930890.1:n.4274T>C
NM_001351295.1:c.4274T>C	NP_001338224.1:p.Ile1425Thr
NM_001351296.1:c.4208T>C	NP_001338225.1:p.Ile1403Thr
NM_001351297.1:c.4205T>C	NP_001338226.1:p.Ile1402Thr
NR_147094.1:n.4503T>C
XM_017018197.2:c.4277T>C	XP_016873686.1:p.Ile1426Thr
XM_017018199.1:c.4274T>C	XP_016873688.1:p.Ile1425Thr
XM_017018201.2:c.4277T>C	XP_016873690.1:p.Ile1426Thr
XM_017018202.1:c.2774T>C	XP_016873691.1:p.Ile925Thr
XM_017018204.1:c.2165T>C	XP_016873693.1:p.Ile722Thr
XM_024448668.1:c.2576T>C	XP_024304436.1:p.Ile859Thr
XR_001747945.2:n.4349T>C
XR_001747946.2:n.4280T>C
XR_002957189.1:n.6063T>C
NM_000352.6:c.4208T>C MANE Select	NP_000343.2:p.Ile1403Thr
NM_001287174.2:c.4211T>C	NP_001274103.1:p.Ile1404Thr
NM_001351295.2:c.4274T>C	NP_001338224.1:p.Ile1425Thr
NM_001351296.2:c.4208T>C	NP_001338225.1:p.Ile1403Thr
NM_001351297.2:c.4205T>C	NP_001338226.1:p.Ile1402Thr
NR_147094.2:n.4503T>C
NM_001287174.3:c.4211T>C	NP_001274103.1:p.Ile1404Thr