Canonical Allele Identifier: CA59882138

Gene: ABCB11

Linked Data

• dbSNP Id: rs2287622
• gnomAD v4: 2-168973818-A-T
• MyVariant Identifiers: chr2:g.169830328A>T (hg19) ; chr2:g.168973818A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168973818A>T , CM000664.2:g.168973818A>T	GRCh38
NC_000002.11:g.169830328A>T , CM000664.1:g.169830328A>T	GRCh37
NC_000002.10:g.169538574A>T	NCBI36
NG_007374.1:g.62506T>A
NG_007374.2:g.62579T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650372.1:c.1331T>A MANE Select	ENSP00000497931.1:p.Val444Asp
ENST00000263817.6:c.1331T>A	ENSP00000263817.6:p.Val444Asp
NM_003742.2:c.1331T>A	NP_003733.2:p.Val444Asp
XM_006712817.2:c.1373T>A	XP_006712880.1:p.Val458Asp
XM_011512077.1:c.1433T>A	XP_011510379.1:p.Val478Asp
XM_011512078.1:c.1433T>A	XP_011510380.1:p.Val478Asp
XM_011512079.1:c.1433T>A	XP_011510381.1:p.Val478Asp
XM_011512080.1:c.1433T>A	XP_011510382.1:p.Val478Asp
NM_003742.4:c.1331T>A MANE Select	NP_003733.2:p.Val444Asp
XM_006712817.3:c.1373T>A	XP_006712880.1:p.Val458Asp
XM_011512077.2:c.1433T>A	XP_011510379.1:p.Val478Asp
XM_011512078.2:c.1433T>A	XP_011510380.1:p.Val478Asp
XM_011512080.2:c.1433T>A	XP_011510382.1:p.Val478Asp
XM_017005165.1:c.1433T>A	XP_016860654.1:p.Val478Asp
XM_017005166.1:c.662T>A	XP_016860655.1:p.Val221Asp
XM_017005167.1:c.116T>A	XP_016860656.1:p.Val39Asp