Canonical Allele Identifier: CA349126382

Gene: ABCB11

Linked Data

• gnomAD v4: 2-168944674-A-C
• MyVariant Identifiers: chr2:g.169801184A>C (hg19) ; chr2:g.168944674A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944674A>C , CM000664.2:g.168944674A>C	GRCh38
NC_000002.11:g.169801184A>C , CM000664.1:g.169801184A>C	GRCh37
NC_000002.10:g.169509430A>C	NCBI36
NG_007374.1:g.91650T>G
NG_007374.2:g.91723T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.858T>G	ENSP00000497165.1:p.Phe286Leu
ENST00000650372.1:c.2541T>G MANE Select	ENSP00000497931.1:p.Phe847Leu
ENST00000263817.6:c.2541T>G	ENSP00000263817.6:p.Phe847Leu
ENST00000439188.1:c.1230T>G	ENSP00000416058.1:n.1230T>G
NM_003742.2:c.2541T>G	NP_003733.2:p.Phe847Leu
XM_006712817.2:c.2583T>G	XP_006712880.1:p.Phe861Leu
XM_011512077.1:c.2643T>G	XP_011510379.1:p.Phe881Leu
XM_011512078.1:c.2643T>G	XP_011510380.1:p.Phe881Leu
XM_011512079.1:c.2643T>G	XP_011510381.1:p.Phe881Leu
XM_011512080.1:c.2643T>G	XP_011510382.1:p.Phe881Leu
XM_011512081.1:c.867T>G	XP_011510383.1:p.Phe289Leu
NM_003742.4:c.2541T>G MANE Select	NP_003733.2:p.Phe847Leu
XM_006712817.3:c.2583T>G	XP_006712880.1:p.Phe861Leu
XM_011512077.2:c.2643T>G	XP_011510379.1:p.Phe881Leu
XM_011512078.2:c.2643T>G	XP_011510380.1:p.Phe881Leu
XM_011512080.2:c.2643T>G	XP_011510382.1:p.Phe881Leu
XM_011512081.2:c.867T>G	XP_011510383.1:p.Phe289Leu
XM_017005165.1:c.2643T>G	XP_016860654.1:p.Phe881Leu
XM_017005166.1:c.1872T>G	XP_016860655.1:p.Phe624Leu
XM_017005167.1:c.1326T>G	XP_016860656.1:p.Phe442Leu