Canonical Allele Identifier: CA349126893

Gene: ABCB11

Linked Data

• MyVariant Identifiers: chr2:g.169801240T>G (hg19) ; chr2:g.168944730T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944730T>G , CM000664.2:g.168944730T>G	GRCh38
NC_000002.11:g.169801240T>G , CM000664.1:g.169801240T>G	GRCh37
NC_000002.10:g.169509486T>G	NCBI36
NG_007374.1:g.91594A>C
NG_007374.2:g.91667A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.802A>C	ENSP00000497165.1:p.Lys268Gln
ENST00000650372.1:c.2485A>C MANE Select	ENSP00000497931.1:p.Lys829Gln
ENST00000263817.6:c.2485A>C	ENSP00000263817.6:p.Lys829Gln
ENST00000439188.1:c.1174A>C	ENSP00000416058.1:n.1174A>C
NM_003742.2:c.2485A>C	NP_003733.2:p.Lys829Gln
XM_006712817.2:c.2527A>C	XP_006712880.1:p.Lys843Gln
XM_011512077.1:c.2587A>C	XP_011510379.1:p.Lys863Gln
XM_011512078.1:c.2587A>C	XP_011510380.1:p.Lys863Gln
XM_011512079.1:c.2587A>C	XP_011510381.1:p.Lys863Gln
XM_011512080.1:c.2587A>C	XP_011510382.1:p.Lys863Gln
XM_011512081.1:c.811A>C	XP_011510383.1:p.Lys271Gln
NM_003742.4:c.2485A>C MANE Select	NP_003733.2:p.Lys829Gln
XM_006712817.3:c.2527A>C	XP_006712880.1:p.Lys843Gln
XM_011512077.2:c.2587A>C	XP_011510379.1:p.Lys863Gln
XM_011512078.2:c.2587A>C	XP_011510380.1:p.Lys863Gln
XM_011512080.2:c.2587A>C	XP_011510382.1:p.Lys863Gln
XM_011512081.2:c.811A>C	XP_011510383.1:p.Lys271Gln
XM_017005165.1:c.2587A>C	XP_016860654.1:p.Lys863Gln
XM_017005166.1:c.1816A>C	XP_016860655.1:p.Lys606Gln
XM_017005167.1:c.1270A>C	XP_016860656.1:p.Lys424Gln