Canonical Allele Identifier: CA349122448

Gene: ABCB11

Linked Data

• MyVariant Identifiers: chr2:g.169788957G>A (hg19) ; chr2:g.168932447G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168932447G>A , CM000664.2:g.168932447G>A	GRCh38
NC_000002.11:g.169788957G>A , CM000664.1:g.169788957G>A	GRCh37
NC_000002.10:g.169497203G>A	NCBI36
NG_007374.1:g.103877C>T
NG_007374.2:g.103950C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.1460C>T	ENSP00000497165.1:p.Ala487Val
ENST00000650372.1:c.3143C>T MANE Select	ENSP00000497931.1:p.Ala1048Val
ENST00000263817.6:c.3143C>T	ENSP00000263817.6:p.Ala1048Val
ENST00000439188.1:c.1832C>T	ENSP00000416058.1:n.1832C>T
NM_003742.2:c.3143C>T	NP_003733.2:p.Ala1048Val
XM_006712817.2:c.3185C>T	XP_006712880.1:p.Ala1062Val
XM_011512077.1:c.3245C>T	XP_011510379.1:p.Ala1082Val
XM_011512078.1:c.3245C>T	XP_011510380.1:p.Ala1082Val
XM_011512079.1:c.3245C>T	XP_011510381.1:p.Ala1082Val
XM_011512081.1:c.1469C>T	XP_011510383.1:p.Ala490Val
NM_003742.4:c.3143C>T MANE Select	NP_003733.2:p.Ala1048Val
XM_006712817.3:c.3185C>T	XP_006712880.1:p.Ala1062Val
XM_011512077.2:c.3245C>T	XP_011510379.1:p.Ala1082Val
XM_011512078.2:c.3245C>T	XP_011510380.1:p.Ala1082Val
XM_011512081.2:c.1469C>T	XP_011510383.1:p.Ala490Val
XM_017005165.1:c.3245C>T	XP_016860654.1:p.Ala1082Val
XM_017005166.1:c.2474C>T	XP_016860655.1:p.Ala825Val
XM_017005167.1:c.1928C>T	XP_016860656.1:p.Ala643Val