Canonical Allele Identifier: CA10611680

Gene: ABCB11

Linked Data

• ClinVar Variation Id: 332010
• ClinVar RCV Id: RCV000351385
• dbSNP Id: rs886055058
• gnomAD v3: 2-168923089-G-T
• gnomAD v4: 2-168923089-G-T
• MyVariant Identifiers: chr2:g.169779599G>T (hg19) ; chr2:g.168923089G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168923089G>T , CM000664.2:g.168923089G>T	GRCh38
NC_000002.11:g.169779599G>T , CM000664.1:g.169779599G>T	GRCh37
NC_000002.10:g.169487845G>T	NCBI36
NG_007374.1:g.113235C>A
NG_007374.2:g.113308C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000648875.1:c.226+1568C>A
ENST00000649448.1:c.2876C>A	ENSP00000497165.1:n.2876C>A
ENST00000650372.1:c.*533C>A MANE Select	ENSP00000497931.1:n.*533C>A
ENST00000263817.6:c.*533C>A	ENSP00000263817.6:n.*533C>A
NM_003742.2:c.*533C>A	NP_003733.2:n.*533C>A
XM_006712817.2:c.*533C>A	XP_006712880.1:n.*533C>A
XM_011512077.1:c.*533C>A	XP_011510379.1:n.*533C>A
XM_011512078.1:c.*487C>A	XP_011510380.1:n.*487C>A
XM_011512079.1:c.*533C>A	XP_011510381.1:n.*533C>A
XM_011512081.1:c.*533C>A	XP_011510383.1:n.*533C>A
NM_003742.4:c.*533C>A MANE Select	NP_003733.2:n.*533C>A
XM_006712817.3:c.*533C>A	XP_006712880.1:n.*533C>A
XM_011512077.2:c.*533C>A	XP_011510379.1:n.*533C>A
XM_011512078.2:c.*487C>A	XP_011510380.1:n.*487C>A
XM_011512081.2:c.*533C>A	XP_011510383.1:n.*533C>A
XM_017005165.1:c.3867+1568C>A	XP_016860654.1:n.3867+1568C>A
XM_017005166.1:c.*533C>A	XP_016860655.1:n.*533C>A
XM_017005167.1:c.*533C>A	XP_016860656.1:n.*533C>A