Canonical Allele Identifier: CA349127884

Gene: ABCB11

Linked Data

• gnomAD v4: 2-168944932-T-A
• MyVariant Identifiers: chr2:g.169801442T>A (hg19) ; chr2:g.168944932T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944932T>A , CM000664.2:g.168944932T>A	GRCh38
NC_000002.11:g.169801442T>A , CM000664.1:g.169801442T>A	GRCh37
NC_000002.10:g.169509688T>A	NCBI36
NG_007374.1:g.91392A>T
NG_007374.2:g.91465A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.690A>T	ENSP00000497165.1:p.Gln230His
ENST00000650372.1:c.2373A>T MANE Select	ENSP00000497931.1:p.Gln791His
ENST00000263817.6:c.2373A>T	ENSP00000263817.6:p.Gln791His
ENST00000439188.1:c.1062A>T	ENSP00000416058.1:n.1062A>T
NM_003742.2:c.2373A>T	NP_003733.2:p.Gln791His
XM_006712817.2:c.2415A>T	XP_006712880.1:p.Gln805His
XM_011512077.1:c.2475A>T	XP_011510379.1:p.Gln825His
XM_011512078.1:c.2475A>T	XP_011510380.1:p.Gln825His
XM_011512079.1:c.2475A>T	XP_011510381.1:p.Gln825His
XM_011512080.1:c.2475A>T	XP_011510382.1:p.Gln825His
XM_011512081.1:c.699A>T	XP_011510383.1:p.Gln233His
NM_003742.4:c.2373A>T MANE Select	NP_003733.2:p.Gln791His
XM_006712817.3:c.2415A>T	XP_006712880.1:p.Gln805His
XM_011512077.2:c.2475A>T	XP_011510379.1:p.Gln825His
XM_011512078.2:c.2475A>T	XP_011510380.1:p.Gln825His
XM_011512080.2:c.2475A>T	XP_011510382.1:p.Gln825His
XM_011512081.2:c.699A>T	XP_011510383.1:p.Gln233His
XM_017005165.1:c.2475A>T	XP_016860654.1:p.Gln825His
XM_017005166.1:c.1704A>T	XP_016860655.1:p.Gln568His
XM_017005167.1:c.1158A>T	XP_016860656.1:p.Gln386His