Canonical Allele Identifier: CA349127872

Gene: ABCB11

Linked Data

• gnomAD v4: 2-168944930-C-G
• MyVariant Identifiers: chr2:g.169801440C>G (hg19) ; chr2:g.168944930C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944930C>G , CM000664.2:g.168944930C>G	GRCh38
NC_000002.11:g.169801440C>G , CM000664.1:g.169801440C>G	GRCh37
NC_000002.10:g.169509686C>G	NCBI36
NG_007374.1:g.91394G>C
NG_007374.2:g.91467G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.692G>C	ENSP00000497165.1:p.Arg231Thr
ENST00000650372.1:c.2375G>C MANE Select	ENSP00000497931.1:p.Arg792Thr
ENST00000263817.6:c.2375G>C	ENSP00000263817.6:p.Arg792Thr
ENST00000439188.1:c.1064G>C	ENSP00000416058.1:n.1064G>C
NM_003742.2:c.2375G>C	NP_003733.2:p.Arg792Thr
XM_006712817.2:c.2417G>C	XP_006712880.1:p.Arg806Thr
XM_011512077.1:c.2477G>C	XP_011510379.1:p.Arg826Thr
XM_011512078.1:c.2477G>C	XP_011510380.1:p.Arg826Thr
XM_011512079.1:c.2477G>C	XP_011510381.1:p.Arg826Thr
XM_011512080.1:c.2477G>C	XP_011510382.1:p.Arg826Thr
XM_011512081.1:c.701G>C	XP_011510383.1:p.Arg234Thr
NM_003742.4:c.2375G>C MANE Select	NP_003733.2:p.Arg792Thr
XM_006712817.3:c.2417G>C	XP_006712880.1:p.Arg806Thr
XM_011512077.2:c.2477G>C	XP_011510379.1:p.Arg826Thr
XM_011512078.2:c.2477G>C	XP_011510380.1:p.Arg826Thr
XM_011512080.2:c.2477G>C	XP_011510382.1:p.Arg826Thr
XM_011512081.2:c.701G>C	XP_011510383.1:p.Arg234Thr
XM_017005165.1:c.2477G>C	XP_016860654.1:p.Arg826Thr
XM_017005166.1:c.1706G>C	XP_016860655.1:p.Arg569Thr
XM_017005167.1:c.1160G>C	XP_016860656.1:p.Arg387Thr