Canonical Allele Identifier: CA1951396

Gene: ABCB11

Linked Data

• ClinVar Variation Id: 284637
• ClinVar RCV Id: RCV000339283 ; RCV000763464 ; RCV000779283 ; RCV001003555 ; RCV003401248 ; RCV003492026 ; RCV003463756
• dbSNP Id: rs769910565
• ExAC: 2:169825008 A / C
• gnomAD v2: 2-169825008-A-C
• gnomAD v3: 2-168968498-A-C
• gnomAD v4: 2-168968498-A-C
• MyVariant Identifiers: chr2:g.169825008A>C (hg19) ; chr2:g.168968498A>C (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168968498A>C , CM000664.2:g.168968498A>C	GRCh38
NC_000002.11:g.169825008A>C , CM000664.1:g.169825008A>C	GRCh37
NC_000002.10:g.169533254A>C	NCBI36
NG_007374.1:g.67826T>G
NG_007374.2:g.67899T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.329-8T>G	ENSP00000497165.1:n.329-8T>G
ENST00000650372.1:c.2012-8T>G MANE Select	ENSP00000497931.1:n.2012-8T>G
ENST00000263817.6:c.2012-8T>G	ENSP00000263817.6:n.2012-8T>G
ENST00000439188.1:c.701-8T>G	ENSP00000416058.1:n.701-8T>G
NM_003742.2:c.2012-8T>G	NP_003733.2:n.2012-8T>G
XM_006712817.2:c.2054-8T>G	XP_006712880.1:n.2054-8T>G
XM_011512077.1:c.2114-8T>G	XP_011510379.1:n.2114-8T>G
XM_011512078.1:c.2114-8T>G	XP_011510380.1:n.2114-8T>G
XM_011512079.1:c.2114-8T>G	XP_011510381.1:n.2114-8T>G
XM_011512080.1:c.2114-8T>G	XP_011510382.1:n.2114-8T>G
XM_011512081.1:c.338-8T>G	XP_011510383.1:n.338-8T>G
NM_003742.4:c.2012-8T>G MANE Select	NP_003733.2:n.2012-8T>G
XM_006712817.3:c.2054-8T>G	XP_006712880.1:n.2054-8T>G
XM_011512077.2:c.2114-8T>G	XP_011510379.1:n.2114-8T>G
XM_011512078.2:c.2114-8T>G	XP_011510380.1:n.2114-8T>G
XM_011512080.2:c.2114-8T>G	XP_011510382.1:n.2114-8T>G
XM_011512081.2:c.338-8T>G	XP_011510383.1:n.338-8T>G
XM_017005165.1:c.2114-8T>G	XP_016860654.1:n.2114-8T>G
XM_017005166.1:c.1343-8T>G	XP_016860655.1:n.1343-8T>G
XM_017005167.1:c.797-8T>G	XP_016860656.1:n.797-8T>G