Canonical Allele Identifier: CA1951194

Gene: ABCB11

Linked Data

• ClinVar Variation Id: 498826
• ClinVar RCV Id: RCV000591821 ; RCV002476297 ; RCV003117361 ; RCV003900319
• dbSNP Id: rs200488448
• ExAC: 2:169792771 C / T
• gnomAD v2: 2-169792771-C-T
• gnomAD v3: 2-168936261-C-T
• gnomAD v4: 2-168936261-C-T
• MyVariant Identifiers: chr2:g.169792771C>T (hg19) ; chr2:g.168936261C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168936261C>T , CM000664.2:g.168936261C>T	GRCh38
NC_000002.11:g.169792771C>T , CM000664.1:g.169792771C>T	GRCh37
NC_000002.10:g.169501017C>T	NCBI36
NG_007374.1:g.100063G>A
NG_007374.2:g.100136G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.1100G>A	ENSP00000497165.1:p.Arg367Gln
ENST00000650372.1:c.2783G>A MANE Select	ENSP00000497931.1:p.Arg928Gln
ENST00000263817.6:c.2783G>A	ENSP00000263817.6:p.Arg928Gln
ENST00000439188.1:c.1472G>A	ENSP00000416058.1:n.1472G>A
NM_003742.2:c.2783G>A	NP_003733.2:p.Arg928Gln
XM_006712817.2:c.2825G>A	XP_006712880.1:p.Arg942Gln
XM_011512077.1:c.2885G>A	XP_011510379.1:p.Arg962Gln
XM_011512078.1:c.2885G>A	XP_011510380.1:p.Arg962Gln
XM_011512079.1:c.2885G>A	XP_011510381.1:p.Arg962Gln
XM_011512080.1:c.2805G>A	XP_011510382.1:p.Ser935=
XM_011512081.1:c.1109G>A	XP_011510383.1:p.Arg370Gln
NM_003742.4:c.2783G>A MANE Select	NP_003733.2:p.Arg928Gln
XM_006712817.3:c.2825G>A	XP_006712880.1:p.Arg942Gln
XM_011512077.2:c.2885G>A	XP_011510379.1:p.Arg962Gln
XM_011512078.2:c.2885G>A	XP_011510380.1:p.Arg962Gln
XM_011512080.2:c.2805G>A	XP_011510382.1:p.Ser935=
XM_011512081.2:c.1109G>A	XP_011510383.1:p.Arg370Gln
XM_017005165.1:c.2885G>A	XP_016860654.1:p.Arg962Gln
XM_017005166.1:c.2114G>A	XP_016860655.1:p.Arg705Gln
XM_017005167.1:c.1568G>A	XP_016860656.1:p.Arg523Gln