Canonical Allele Identifier: CA379801444

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1338431
• ClinVar RCV Id: RCV001817802 ; RCV003321874 ; RCV004526149
• dbSNP Id: rs1352191146
• gnomAD v2: 11-17428208-T-G
• gnomAD v4: 11-17406661-T-G
• MyVariant Identifiers: chr11:g.17428208T>G (hg19) ; chr11:g.17406661T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406661T>G , CM000673.2:g.17406661T>G	GRCh38
NC_000011.9:g.17428208T>G , CM000673.1:g.17428208T>G	GRCh37
NC_000011.8:g.17384784T>G	NCBI36
NG_008867.1:g.75242A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2859A>C
ENST00000529967.6:n.1629A>C
ENST00000532220.2:n.1022A>C
ENST00000642611.2:n.3359A>C
ENST00000645004.2:n.789A>C
ENST00000682051.1:n.3306A>C
ENST00000682110.1:n.3359A>C
ENST00000682140.1:c.3287A>C	ENSP00000507829.1:p.His1096Pro
ENST00000682185.1:n.4595A>C
ENST00000682204.1:c.*1428A>C	ENSP00000507094.1:n.*1428A>C
ENST00000682215.1:n.3356A>C
ENST00000682288.1:c.*1721A>C	ENSP00000507506.1:n.*1721A>C
ENST00000682442.1:n.3579A>C
ENST00000682528.1:n.3436A>C
ENST00000682673.1:n.3303A>C
ENST00000682805.1:n.3356A>C
ENST00000682965.1:c.3287A>C	ENSP00000508229.1:p.His1096Pro
ENST00000683093.1:n.3458A>C
ENST00000683136.1:c.3287A>C	ENSP00000507768.1:p.His1096Pro
ENST00000683153.1:n.3515A>C
ENST00000683365.1:n.3461A>C
ENST00000683377.1:n.3359A>C
ENST00000683456.1:c.*427A>C	ENSP00000508318.1:n.*427A>C
ENST00000683522.1:n.3359A>C
ENST00000683562.1:c.*1459A>C	ENSP00000508265.1:n.*1459A>C
ENST00000683693.1:n.3436A>C
ENST00000683725.1:c.3290A>C	ENSP00000507496.1:p.His1097Pro
ENST00000684010.1:n.3354A>C
ENST00000684157.1:n.3359A>C
ENST00000684253.1:n.3262A>C
ENST00000684288.1:c.*1462A>C	ENSP00000507143.1:n.*1462A>C
ENST00000684313.1:n.2791A>C
ENST00000684332.1:n.3432A>C
ENST00000684371.1:n.3465A>C
ENST00000684404.1:n.3402A>C
ENST00000684442.1:n.3359A>C
ENST00000684555.1:c.*1502A>C	ENSP00000507705.1:n.*1502A>C
ENST00000684571.1:c.3131A>C	ENSP00000506935.1:p.His1044Pro
ENST00000684593.1:c.*2995A>C	ENSP00000507005.1:n.*2995A>C
ENST00000684711.1:c.*1686A>C	ENSP00000506841.1:n.*1686A>C
ENST00000302539.9:c.3293A>C	ENSP00000303960.4:p.His1098Pro
ENST00000389817.8:c.3290A>C MANE Select	ENSP00000374467.4:p.His1097Pro
ENST00000642271.1:c.3287A>C	ENSP00000493749.1:p.His1096Pro
ENST00000642579.1:c.1374A>C
ENST00000642611.1:n.3244A>C
ENST00000642902.1:c.3072A>C
ENST00000643260.1:c.3290A>C	ENSP00000494450.1:p.His1097Pro
ENST00000643562.1:c.*1266A>C	ENSP00000496124.1:n.*1266A>C
ENST00000643925.1:c.1414A>C
ENST00000644447.1:c.1646A>C	ENSP00000496282.1:p.His549Pro
ENST00000644484.1:c.*1545A>C	ENSP00000493558.1:n.*1545A>C
ENST00000644542.1:c.*3094A>C	ENSP00000495532.1:n.*3094A>C
ENST00000644675.1:c.*1462A>C	ENSP00000494567.1:n.*1462A>C
ENST00000644757.1:c.*1575A>C	ENSP00000495085.1:n.*1575A>C
ENST00000644772.1:c.3356A>C	ENSP00000494321.1:p.His1119Pro
ENST00000645004.1:n.429A>C
ENST00000645076.1:c.2489A>C
ENST00000645417.1:c.456A>C
ENST00000645744.1:c.*1554A>C	ENSP00000494564.1:n.*1554A>C
ENST00000645760.1:c.3565A>C
ENST00000645884.1:c.*427A>C	ENSP00000495516.1:n.*427A>C
ENST00000646003.1:c.*1246A>C	ENSP00000495259.1:n.*1246A>C
ENST00000646207.1:c.*1757A>C	ENSP00000495025.1:n.*1757A>C
ENST00000646276.1:c.*1563A>C	ENSP00000496070.1:n.*1563A>C
ENST00000646592.1:c.2596A>C
ENST00000646902.1:c.3287A>C	ENSP00000494101.1:p.His1096Pro
ENST00000646993.1:c.*1686A>C	ENSP00000493720.1:n.*1686A>C
ENST00000647013.1:c.3296A>C	ENSP00000496741.1:n.3296A>C
ENST00000647015.1:c.3041A>C	ENSP00000495389.1:p.His1014Pro
ENST00000647086.1:c.*3020A>C	ENSP00000493677.1:n.*3020A>C
ENST00000647158.1:c.*1431A>C	ENSP00000495744.1:n.*1431A>C
ENST00000302539.8:c.3293A>C	ENSP00000303960.4:p.His1098Pro
ENST00000389817.7:c.3290A>C	ENSP00000374467.3:p.His1097Pro
ENST00000524561.1:n.422A>C
ENST00000527905.5:c.*166A>C	ENSP00000431653.1:n.*166A>C
NM_000352.4:c.3290A>C	NP_000343.2:p.His1097Pro
NM_001287174.1:c.3293A>C	NP_001274103.1:p.His1098Pro
XM_011520331.1:c.3290A>C	XP_011518633.1:p.His1097Pro
XM_011520332.1:c.3293A>C	XP_011518634.1:p.His1098Pro
XM_011520333.1:c.1790A>C	XP_011518635.1:p.His597Pro
XR_930890.1:n.3356A>C
XR_930891.1:n.3356A>C
XR_930892.1:n.3256A>C
XR_930893.1:n.3253A>C
NM_001351295.1:c.3356A>C	NP_001338224.1:p.His1119Pro
NM_001351296.1:c.3290A>C	NP_001338225.1:p.His1097Pro
NM_001351297.1:c.3287A>C	NP_001338226.1:p.His1096Pro
NR_147094.1:n.3439A>C
XM_017018197.2:c.3359A>C	XP_016873686.1:p.His1120Pro
XM_017018199.1:c.3356A>C	XP_016873688.1:p.His1119Pro
XM_017018201.2:c.3359A>C	XP_016873690.1:p.His1120Pro
XM_017018202.1:c.1856A>C	XP_016873691.1:p.His619Pro
XM_017018204.1:c.1247A>C	XP_016873693.1:p.His416Pro
XM_024448668.1:c.1658A>C	XP_024304436.1:p.His553Pro
XR_001747945.2:n.3431A>C
XR_001747946.2:n.3362A>C
XR_002957189.1:n.3511A>C
NM_000352.6:c.3290A>C MANE Select	NP_000343.2:p.His1097Pro
NM_001287174.2:c.3293A>C	NP_001274103.1:p.His1098Pro
NM_001351295.2:c.3356A>C	NP_001338224.1:p.His1119Pro
NM_001351296.2:c.3290A>C	NP_001338225.1:p.His1097Pro
NM_001351297.2:c.3287A>C	NP_001338226.1:p.His1096Pro
NR_147094.2:n.3439A>C
NM_001287174.3:c.3293A>C	NP_001274103.1:p.His1098Pro