Canonical Allele Identifier: CA349127587

Gene: ABCB11

Linked Data

• gnomAD v4: 2-168944895-C-T
• MyVariant Identifiers: chr2:g.169801405C>T (hg19) ; chr2:g.168944895C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944895C>T , CM000664.2:g.168944895C>T	GRCh38
NC_000002.11:g.169801405C>T , CM000664.1:g.169801405C>T	GRCh37
NC_000002.10:g.169509651C>T	NCBI36
NG_007374.1:g.91429G>A
NG_007374.2:g.91502G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.727G>A	ENSP00000497165.1:p.Ala243Thr
ENST00000650372.1:c.2410G>A MANE Select	ENSP00000497931.1:p.Ala804Thr
ENST00000263817.6:c.2410G>A	ENSP00000263817.6:p.Ala804Thr
ENST00000439188.1:c.1099G>A	ENSP00000416058.1:n.1099G>A
NM_003742.2:c.2410G>A	NP_003733.2:p.Ala804Thr
XM_006712817.2:c.2452G>A	XP_006712880.1:p.Ala818Thr
XM_011512077.1:c.2512G>A	XP_011510379.1:p.Ala838Thr
XM_011512078.1:c.2512G>A	XP_011510380.1:p.Ala838Thr
XM_011512079.1:c.2512G>A	XP_011510381.1:p.Ala838Thr
XM_011512080.1:c.2512G>A	XP_011510382.1:p.Ala838Thr
XM_011512081.1:c.736G>A	XP_011510383.1:p.Ala246Thr
NM_003742.4:c.2410G>A MANE Select	NP_003733.2:p.Ala804Thr
XM_006712817.3:c.2452G>A	XP_006712880.1:p.Ala818Thr
XM_011512077.2:c.2512G>A	XP_011510379.1:p.Ala838Thr
XM_011512078.2:c.2512G>A	XP_011510380.1:p.Ala838Thr
XM_011512080.2:c.2512G>A	XP_011510382.1:p.Ala838Thr
XM_011512081.2:c.736G>A	XP_011510383.1:p.Ala246Thr
XM_017005165.1:c.2512G>A	XP_016860654.1:p.Ala838Thr
XM_017005166.1:c.1741G>A	XP_016860655.1:p.Ala581Thr
XM_017005167.1:c.1195G>A	XP_016860656.1:p.Ala399Thr