Canonical Allele Identifier: CA349126078

Gene: ABCB11

Linked Data

• dbSNP Id: rs1692217194
• gnomAD v4: 2-168944624-T-A
• MyVariant Identifiers: chr2:g.169801134T>A (hg19) ; chr2:g.168944624T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944624T>A , CM000664.2:g.168944624T>A	GRCh38
NC_000002.11:g.169801134T>A , CM000664.1:g.169801134T>A	GRCh37
NC_000002.10:g.169509380T>A	NCBI36
NG_007374.1:g.91700A>T
NG_007374.2:g.91773A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000649448.1:c.908A>T	ENSP00000497165.1:p.Asp303Val
ENST00000650372.1:c.2591A>T MANE Select	ENSP00000497931.1:p.Asp864Val
ENST00000263817.6:c.2591A>T	ENSP00000263817.6:p.Asp864Val
ENST00000439188.1:c.1280A>T	ENSP00000416058.1:n.1280A>T
NM_003742.2:c.2591A>T	NP_003733.2:p.Asp864Val
XM_006712817.2:c.2633A>T	XP_006712880.1:p.Asp878Val
XM_011512077.1:c.2693A>T	XP_011510379.1:p.Asp898Val
XM_011512078.1:c.2693A>T	XP_011510380.1:p.Asp898Val
XM_011512079.1:c.2693A>T	XP_011510381.1:p.Asp898Val
XM_011512080.1:c.2693A>T	XP_011510382.1:p.Asp898Val
XM_011512081.1:c.917A>T	XP_011510383.1:p.Asp306Val
NM_003742.4:c.2591A>T MANE Select	NP_003733.2:p.Asp864Val
XM_006712817.3:c.2633A>T	XP_006712880.1:p.Asp878Val
XM_011512077.2:c.2693A>T	XP_011510379.1:p.Asp898Val
XM_011512078.2:c.2693A>T	XP_011510380.1:p.Asp898Val
XM_011512080.2:c.2693A>T	XP_011510382.1:p.Asp898Val
XM_011512081.2:c.917A>T	XP_011510383.1:p.Asp306Val
XM_017005165.1:c.2693A>T	XP_016860654.1:p.Asp898Val
XM_017005166.1:c.1922A>T	XP_016860655.1:p.Asp641Val
XM_017005167.1:c.1376A>T	XP_016860656.1:p.Asp459Val