Canonical Allele Identifier: CA1951262

Gene: ABCB11

Linked Data

• ClinVar Variation Id: 501603
• ClinVar RCV Id: RCV000597325 ; RCV001329749 ; RCV001261597 ; RCV002509461 ; RCV003338678
• dbSNP Id: rs772294884
• ExAC: 2:169801231 G / A
• gnomAD v2: 2-169801231-G-A
• gnomAD v3: 2-168944721-G-A
• gnomAD v4: 2-168944721-G-A
• COSMIC: COSM1009122 ; COSM4864694
• MyVariant Identifiers: chr2:g.169801231G>A (hg19) ; chr2:g.168944721G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944721G>A , CM000664.2:g.168944721G>A	GRCh38
NC_000002.11:g.169801231G>A , CM000664.1:g.169801231G>A	GRCh37
NC_000002.10:g.169509477G>A	NCBI36
NG_007374.1:g.91603C>T
NG_007374.2:g.91676C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.811C>T	ENSP00000497165.1:p.Arg271Cys
ENST00000650372.1:c.2494C>T MANE Select	ENSP00000497931.1:p.Arg832Cys
ENST00000263817.6:c.2494C>T	ENSP00000263817.6:p.Arg832Cys
ENST00000439188.1:c.1183C>T	ENSP00000416058.1:n.1183C>T
NM_003742.2:c.2494C>T	NP_003733.2:p.Arg832Cys
XM_006712817.2:c.2536C>T	XP_006712880.1:p.Arg846Cys
XM_011512077.1:c.2596C>T	XP_011510379.1:p.Arg866Cys
XM_011512078.1:c.2596C>T	XP_011510380.1:p.Arg866Cys
XM_011512079.1:c.2596C>T	XP_011510381.1:p.Arg866Cys
XM_011512080.1:c.2596C>T	XP_011510382.1:p.Arg866Cys
XM_011512081.1:c.820C>T	XP_011510383.1:p.Arg274Cys
NM_003742.4:c.2494C>T MANE Select	NP_003733.2:p.Arg832Cys
XM_006712817.3:c.2536C>T	XP_006712880.1:p.Arg846Cys
XM_011512077.2:c.2596C>T	XP_011510379.1:p.Arg866Cys
XM_011512078.2:c.2596C>T	XP_011510380.1:p.Arg866Cys
XM_011512080.2:c.2596C>T	XP_011510382.1:p.Arg866Cys
XM_011512081.2:c.820C>T	XP_011510383.1:p.Arg274Cys
XM_017005165.1:c.2596C>T	XP_016860654.1:p.Arg866Cys
XM_017005166.1:c.1825C>T	XP_016860655.1:p.Arg609Cys
XM_017005167.1:c.1279C>T	XP_016860656.1:p.Arg427Cys