Canonical Allele Identifier: CA1951104

Gene: ABCB11

Linked Data

• ClinVar Variation Id: 259152
• ClinVar RCV Id: RCV000246223 ; RCV000324953 ; RCV001511201 ; RCV001543099
• dbSNP Id: rs497692
• ExAC: 2:169789016 T / C
• gnomAD v2: 2-169789016-T-C
• gnomAD v3: 2-168932506-T-C
• gnomAD v4: 2-168932506-T-C
• MyVariant Identifiers: chr2:g.169789016T>C (hg19) ; chr2:g.168932506T>C (hg38)
• PubMed: PMID:19101985

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168932506T>C , CM000664.2:g.168932506T>C	GRCh38
NC_000002.11:g.169789016T>C , CM000664.1:g.169789016T>C	GRCh37
NC_000002.10:g.169497262T>C	NCBI36
NG_007374.1:g.103818A>G
NG_007374.2:g.103891A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647920.1:c.411A>G
ENST00000649448.1:c.1401A>G	ENSP00000497165.1:p.Ala467=
ENST00000650372.1:c.3084A>G MANE Select	ENSP00000497931.1:p.Ala1028=
ENST00000263817.6:c.3084A>G	ENSP00000263817.6:p.Ala1028=
ENST00000439188.1:c.1773A>G	ENSP00000416058.1:n.1773A>G
NM_003742.2:c.3084A>G	NP_003733.2:p.Ala1028=
XM_006712817.2:c.3126A>G	XP_006712880.1:p.Ala1042=
XM_011512077.1:c.3186A>G	XP_011510379.1:p.Ala1062=
XM_011512078.1:c.3186A>G	XP_011510380.1:p.Ala1062=
XM_011512079.1:c.3186A>G	XP_011510381.1:p.Ala1062=
XM_011512081.1:c.1410A>G	XP_011510383.1:p.Ala470=
NM_003742.4:c.3084A>G MANE Select	NP_003733.2:p.Ala1028=
XM_006712817.3:c.3126A>G	XP_006712880.1:p.Ala1042=
XM_011512077.2:c.3186A>G	XP_011510379.1:p.Ala1062=
XM_011512078.2:c.3186A>G	XP_011510380.1:p.Ala1062=
XM_011512081.2:c.1410A>G	XP_011510383.1:p.Ala470=
XM_017005165.1:c.3186A>G	XP_016860654.1:p.Ala1062=
XM_017005166.1:c.2415A>G	XP_016860655.1:p.Ala805=
XM_017005167.1:c.1869A>G	XP_016860656.1:p.Ala623=