Canonical Allele Identifier: CA2959316
Gene: ALB HGNC NCBI

Linked Data

ClinVar Variation Id: 904664
ClinVar RCV Id: RCV001152706
dbSNP Id: rs200736287
gnomAD v2: 4-74272456-C-T
gnomAD v3: 4-73406739-C-T
gnomAD v4: 4-73406739-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.73406739C>T , CM000666.2:g.73406739C>T GRCh38
NC_000004.11:g.74272456C>T , CM000666.1:g.74272456C>T GRCh37
NC_000004.10:g.74491320C>T NCBI36
NG_009291.1:g.7485C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295897.9:c.248C>T MANE Select ENSP00000295897.4:p.Ala83Val
ENST00000295897.8:c.248C>T ENSP00000295897.4:p.Ala83Val
ENST00000401494.7:c.137+1566C>T ENSP00000384695.3:n.137+1566C>T
ENST00000415165.6:c.137+1566C>T ENSP00000401820.2:n.137+1566C>T
ENST00000441319.5:c.254C>T ENSP00000392541.1:p.Ala85Val
ENST00000476441.6:c.79+2333C>T ENSP00000423727.1:n.79+2333C>T
ENST00000503124.5:c.10C>T ENSP00000421027.1:p.Leu4=
ENST00000509063.5:c.248C>T ENSP00000422784.1:p.Ala83Val
ENST00000510166.5:n.284C>T
ENST00000514786.1:n.217C>T
ENST00000515133.5:n.289C>T
ENST00000621085.4:c.248C>T ENSP00000483421.1:p.Ala83Val
ENST00000621628.4:c.248C>T ENSP00000480485.1:p.Ala83Val
NM_000477.5:c.248C>T NP_000468.1:p.Ala83Val
NM_000477.6:c.248C>T NP_000468.1:p.Ala83Val
NM_000477.7:c.248C>T MANE Select NP_000468.1:p.Ala83Val