Canonical Allele Identifier: CA537526768

Gene: ABCB11

Linked Data

• dbSNP Id: rs1213193045
• gnomAD v2: 2-169779726-T-G
• gnomAD v3: 2-168923216-T-G
• gnomAD v4: 2-168923216-T-G
• MyVariant Identifiers: chr2:g.169779726T>G (hg19) ; chr2:g.168923216T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168923216T>G , CM000664.2:g.168923216T>G	GRCh38
NC_000002.11:g.169779726T>G , CM000664.1:g.169779726T>G	GRCh37
NC_000002.10:g.169487972T>G	NCBI36
NG_007374.1:g.113108A>C
NG_007374.2:g.113181A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648875.1:c.226+1441A>C
ENST00000649448.1:c.2749A>C	ENSP00000497165.1:n.2749A>C
ENST00000650372.1:c.*406A>C MANE Select	ENSP00000497931.1:n.*406A>C
ENST00000263817.6:c.*406A>C	ENSP00000263817.6:n.*406A>C
NM_003742.2:c.*406A>C	NP_003733.2:n.*406A>C
XM_006712817.2:c.*406A>C	XP_006712880.1:n.*406A>C
XM_011512077.1:c.*406A>C	XP_011510379.1:n.*406A>C
XM_011512078.1:c.*360A>C	XP_011510380.1:n.*360A>C
XM_011512079.1:c.*406A>C	XP_011510381.1:n.*406A>C
XM_011512081.1:c.*406A>C	XP_011510383.1:n.*406A>C
NM_003742.4:c.*406A>C MANE Select	NP_003733.2:n.*406A>C
XM_006712817.3:c.*406A>C	XP_006712880.1:n.*406A>C
XM_011512077.2:c.*406A>C	XP_011510379.1:n.*406A>C
XM_011512078.2:c.*360A>C	XP_011510380.1:n.*360A>C
XM_011512081.2:c.*406A>C	XP_011510383.1:n.*406A>C
XM_017005165.1:c.3867+1441A>C	XP_016860654.1:n.3867+1441A>C
XM_017005166.1:c.*406A>C	XP_016860655.1:n.*406A>C
XM_017005167.1:c.*406A>C	XP_016860656.1:n.*406A>C