Canonical Allele Identifier: CA349126377

Gene: ABCB11

Linked Data

• dbSNP Id: rs1325159302
• gnomAD v2: 2-169801183-C-G
• gnomAD v4: 2-168944673-C-G
• MyVariant Identifiers: chr2:g.169801183C>G (hg19) ; chr2:g.168944673C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944673C>G , CM000664.2:g.168944673C>G	GRCh38
NC_000002.11:g.169801183C>G , CM000664.1:g.169801183C>G	GRCh37
NC_000002.10:g.169509429C>G	NCBI36
NG_007374.1:g.91651G>C
NG_007374.2:g.91724G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.859G>C	ENSP00000497165.1:p.Asp287His
ENST00000650372.1:c.2542G>C MANE Select	ENSP00000497931.1:p.Asp848His
ENST00000263817.6:c.2542G>C	ENSP00000263817.6:p.Asp848His
ENST00000439188.1:c.1231G>C	ENSP00000416058.1:n.1231G>C
NM_003742.2:c.2542G>C	NP_003733.2:p.Asp848His
XM_006712817.2:c.2584G>C	XP_006712880.1:p.Asp862His
XM_011512077.1:c.2644G>C	XP_011510379.1:p.Asp882His
XM_011512078.1:c.2644G>C	XP_011510380.1:p.Asp882His
XM_011512079.1:c.2644G>C	XP_011510381.1:p.Asp882His
XM_011512080.1:c.2644G>C	XP_011510382.1:p.Asp882His
XM_011512081.1:c.868G>C	XP_011510383.1:p.Asp290His
NM_003742.4:c.2542G>C MANE Select	NP_003733.2:p.Asp848His
XM_006712817.3:c.2584G>C	XP_006712880.1:p.Asp862His
XM_011512077.2:c.2644G>C	XP_011510379.1:p.Asp882His
XM_011512078.2:c.2644G>C	XP_011510380.1:p.Asp882His
XM_011512080.2:c.2644G>C	XP_011510382.1:p.Asp882His
XM_011512081.2:c.868G>C	XP_011510383.1:p.Asp290His
XM_017005165.1:c.2644G>C	XP_016860654.1:p.Asp882His
XM_017005166.1:c.1873G>C	XP_016860655.1:p.Asp625His
XM_017005167.1:c.1327G>C	XP_016860656.1:p.Asp443His