Canonical Allele Identifier: CA1951247

Gene: ABCB11

Linked Data

• ClinVar Variation Id: 1658746
• ClinVar RCV Id: RCV002174313
• dbSNP Id: rs760922641
• ExAC: 2:169801133 A / G
• gnomAD v2: 2-169801133-A-G
• gnomAD v4: 2-168944623-A-G
• MyVariant Identifiers: chr2:g.169801133A>G (hg19) ; chr2:g.168944623A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944623A>G , CM000664.2:g.168944623A>G	GRCh38
NC_000002.11:g.169801133A>G , CM000664.1:g.169801133A>G	GRCh37
NC_000002.10:g.169509379A>G	NCBI36
NG_007374.1:g.91701T>C
NG_007374.2:g.91774T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000649448.1:c.909T>C	ENSP00000497165.1:p.Asp303=
ENST00000650372.1:c.2592T>C MANE Select	ENSP00000497931.1:p.Asp864=
ENST00000263817.6:c.2592T>C	ENSP00000263817.6:p.Asp864=
ENST00000439188.1:c.1281T>C	ENSP00000416058.1:n.1281T>C
NM_003742.2:c.2592T>C	NP_003733.2:p.Asp864=
XM_006712817.2:c.2634T>C	XP_006712880.1:p.Asp878=
XM_011512077.1:c.2694T>C	XP_011510379.1:p.Asp898=
XM_011512078.1:c.2694T>C	XP_011510380.1:p.Asp898=
XM_011512079.1:c.2694T>C	XP_011510381.1:p.Asp898=
XM_011512080.1:c.2694T>C	XP_011510382.1:p.Asp898=
XM_011512081.1:c.918T>C	XP_011510383.1:p.Asp306=
NM_003742.4:c.2592T>C MANE Select	NP_003733.2:p.Asp864=
XM_006712817.3:c.2634T>C	XP_006712880.1:p.Asp878=
XM_011512077.2:c.2694T>C	XP_011510379.1:p.Asp898=
XM_011512078.2:c.2694T>C	XP_011510380.1:p.Asp898=
XM_011512080.2:c.2694T>C	XP_011510382.1:p.Asp898=
XM_011512081.2:c.918T>C	XP_011510383.1:p.Asp306=
XM_017005165.1:c.2694T>C	XP_016860654.1:p.Asp898=
XM_017005166.1:c.1923T>C	XP_016860655.1:p.Asp641=
XM_017005167.1:c.1377T>C	XP_016860656.1:p.Asp459=