Canonical Allele Identifier: CA59867411

Gene: ABCB11

Linked Data

• dbSNP Id: rs897123303
• MyVariant Identifiers: chr2:g.169779444A>G (hg19) ; chr2:g.168922934A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168922934A>G , CM000664.2:g.168922934A>G	GRCh38
NC_000002.11:g.169779444A>G , CM000664.1:g.169779444A>G	GRCh37
NC_000002.10:g.169487690A>G	NCBI36
NG_007374.1:g.113390T>C
NG_007374.2:g.113463T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648875.1:c.226+1723T>C
ENST00000650372.1:c.*688T>C MANE Select	ENSP00000497931.1:n.*688T>C
XM_006712817.2:c.*688T>C	XP_006712880.1:n.*688T>C
XM_011512077.1:c.*688T>C	XP_011510379.1:n.*688T>C
XM_011512078.1:c.*642T>C	XP_011510380.1:n.*642T>C
XM_011512079.1:c.*688T>C	XP_011510381.1:n.*688T>C
XM_011512081.1:c.*688T>C	XP_011510383.1:n.*688T>C
NM_003742.4:c.*688T>C MANE Select	NP_003733.2:n.*688T>C
XM_006712817.3:c.*688T>C	XP_006712880.1:n.*688T>C
XM_011512077.2:c.*688T>C	XP_011510379.1:n.*688T>C
XM_011512078.2:c.*642T>C	XP_011510380.1:n.*642T>C
XM_011512081.2:c.*688T>C	XP_011510383.1:n.*688T>C
XM_017005165.1:c.3867+1723T>C	XP_016860654.1:n.3867+1723T>C
XM_017005166.1:c.*688T>C	XP_016860655.1:n.*688T>C
XM_017005167.1:c.*688T>C	XP_016860656.1:n.*688T>C