Canonical Allele Identifier: CA760461832

Gene: ABCB11

Linked Data

• ClinVar Variation Id: 892997
• ClinVar RCV Id: RCV001130032
• dbSNP Id: rs1351596156
• gnomAD v3: 2-168922982-C-G
• gnomAD v4: 2-168922982-C-G
• MyVariant Identifiers: chr2:g.169779492C>G (hg19) ; chr2:g.168922982C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168922982C>G , CM000664.2:g.168922982C>G	GRCh38
NC_000002.11:g.169779492C>G , CM000664.1:g.169779492C>G	GRCh37
NC_000002.10:g.169487738C>G	NCBI36
NG_007374.1:g.113342G>C
NG_007374.2:g.113415G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648875.1:c.226+1675G>C
ENST00000649448.1:c.2983G>C	ENSP00000497165.1:n.2983G>C
ENST00000650372.1:c.*640G>C MANE Select	ENSP00000497931.1:n.*640G>C
ENST00000263817.6:c.*640G>C	ENSP00000263817.6:n.*640G>C
NM_003742.2:c.*640G>C	NP_003733.2:n.*640G>C
XM_006712817.2:c.*640G>C	XP_006712880.1:n.*640G>C
XM_011512077.1:c.*640G>C	XP_011510379.1:n.*640G>C
XM_011512078.1:c.*594G>C	XP_011510380.1:n.*594G>C
XM_011512079.1:c.*640G>C	XP_011510381.1:n.*640G>C
XM_011512081.1:c.*640G>C	XP_011510383.1:n.*640G>C
NM_003742.4:c.*640G>C MANE Select	NP_003733.2:n.*640G>C
XM_006712817.3:c.*640G>C	XP_006712880.1:n.*640G>C
XM_011512077.2:c.*640G>C	XP_011510379.1:n.*640G>C
XM_011512078.2:c.*594G>C	XP_011510380.1:n.*594G>C
XM_011512081.2:c.*640G>C	XP_011510383.1:n.*640G>C
XM_017005165.1:c.3867+1675G>C	XP_016860654.1:n.3867+1675G>C
XM_017005166.1:c.*640G>C	XP_016860655.1:n.*640G>C
XM_017005167.1:c.*640G>C	XP_016860656.1:n.*640G>C