Canonical Allele Identifier: CA760446593

Gene: ABCB11

Linked Data

• dbSNP Id: rs1358785531
• gnomAD v3: 2-168927935-A-G
• gnomAD v4: 2-168927935-A-G
• MyVariant Identifiers: chr2:g.169784445A>G (hg19) ; chr2:g.168927935A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168927935A>G , CM000664.2:g.168927935A>G	GRCh38
NC_000002.11:g.169784445A>G , CM000664.1:g.169784445A>G	GRCh37
NC_000002.10:g.169492691A>G	NCBI36
NG_007374.1:g.108389T>C
NG_007374.2:g.108462T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000649448.1:c.1789-573T>C	ENSP00000497165.1:n.1789-573T>C
ENST00000650372.1:c.3412-573T>C MANE Select	ENSP00000497931.1:n.3412-573T>C
ENST00000263817.6:c.3412-573T>C	ENSP00000263817.6:n.3412-573T>C
ENST00000439188.1:c.2101-645T>C	ENSP00000416058.1:n.2101-645T>C
NM_003742.2:c.3412-573T>C	NP_003733.2:n.3412-573T>C
XM_006712817.2:c.3454-573T>C	XP_006712880.1:n.3454-573T>C
XM_011512077.1:c.3514-573T>C	XP_011510379.1:n.3514-573T>C
XM_011512078.1:c.3514-573T>C	XP_011510380.1:n.3514-573T>C
XM_011512079.1:c.3514-573T>C	XP_011510381.1:n.3514-573T>C
XM_011512081.1:c.1738-573T>C	XP_011510383.1:n.1738-573T>C
NM_003742.4:c.3412-573T>C MANE Select	NP_003733.2:n.3412-573T>C
XM_006712817.3:c.3454-573T>C	XP_006712880.1:n.3454-573T>C
XM_011512077.2:c.3514-573T>C	XP_011510379.1:n.3514-573T>C
XM_011512078.2:c.3514-573T>C	XP_011510380.1:n.3514-573T>C
XM_011512081.2:c.1738-573T>C	XP_011510383.1:n.1738-573T>C
XM_017005165.1:c.3514-573T>C	XP_016860654.1:n.3514-573T>C
XM_017005166.1:c.2743-573T>C	XP_016860655.1:n.2743-573T>C
XM_017005167.1:c.2197-573T>C	XP_016860656.1:n.2197-573T>C