Canonical Allele Identifier: CA349122453

Gene: ABCB11

Linked Data

• gnomAD v4: 2-168932448-C-G
• MyVariant Identifiers: chr2:g.169788958C>G (hg19) ; chr2:g.168932448C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168932448C>G , CM000664.2:g.168932448C>G	GRCh38
NC_000002.11:g.169788958C>G , CM000664.1:g.169788958C>G	GRCh37
NC_000002.10:g.169497204C>G	NCBI36
NG_007374.1:g.103876G>C
NG_007374.2:g.103949G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.1459G>C	ENSP00000497165.1:p.Ala487Pro
ENST00000650372.1:c.3142G>C MANE Select	ENSP00000497931.1:p.Ala1048Pro
ENST00000263817.6:c.3142G>C	ENSP00000263817.6:p.Ala1048Pro
ENST00000439188.1:c.1831G>C	ENSP00000416058.1:n.1831G>C
NM_003742.2:c.3142G>C	NP_003733.2:p.Ala1048Pro
XM_006712817.2:c.3184G>C	XP_006712880.1:p.Ala1062Pro
XM_011512077.1:c.3244G>C	XP_011510379.1:p.Ala1082Pro
XM_011512078.1:c.3244G>C	XP_011510380.1:p.Ala1082Pro
XM_011512079.1:c.3244G>C	XP_011510381.1:p.Ala1082Pro
XM_011512081.1:c.1468G>C	XP_011510383.1:p.Ala490Pro
NM_003742.4:c.3142G>C MANE Select	NP_003733.2:p.Ala1048Pro
XM_006712817.3:c.3184G>C	XP_006712880.1:p.Ala1062Pro
XM_011512077.2:c.3244G>C	XP_011510379.1:p.Ala1082Pro
XM_011512078.2:c.3244G>C	XP_011510380.1:p.Ala1082Pro
XM_011512081.2:c.1468G>C	XP_011510383.1:p.Ala490Pro
XM_017005165.1:c.3244G>C	XP_016860654.1:p.Ala1082Pro
XM_017005166.1:c.2473G>C	XP_016860655.1:p.Ala825Pro
XM_017005167.1:c.1927G>C	XP_016860656.1:p.Ala643Pro