Canonical Allele Identifier: CA2959562

Gene: ALB

Linked Data

• dbSNP Id: rs149483745
• ExAC: 4:74280852 G / A
• gnomAD v2: 4-74280852-G-A
• gnomAD v3: 4-73415135-G-A
• gnomAD v4: 4-73415135-G-A
• COSMIC: COSM6226293
• MyVariant Identifiers: chr4:g.74280852G>A (hg19) ; chr4:g.73415135G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.73415135G>A , CM000666.2:g.73415135G>A	GRCh38
NC_000004.11:g.74280852G>A , CM000666.1:g.74280852G>A	GRCh37
NC_000004.10:g.74499716G>A	NCBI36
NG_009291.1:g.15881G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295897.9:c.1159G>A MANE Select	ENSP00000295897.4:p.Ala387Thr
ENST00000295897.8:c.1159G>A	ENSP00000295897.4:p.Ala387Thr
ENST00000401494.7:c.814G>A	ENSP00000384695.3:p.Ala272Thr
ENST00000415165.6:c.583G>A	ENSP00000401820.2:p.Ala195Thr
ENST00000476441.6:c.*438G>A	ENSP00000423727.1:n.*438G>A
ENST00000484992.1:n.479G>A
ENST00000503124.5:c.709G>A	ENSP00000421027.1:p.Ala237Thr
ENST00000504043.1:n.162G>A
ENST00000505649.5:n.845G>A
ENST00000509063.5:c.1159G>A	ENSP00000422784.1:p.Ala387Thr
ENST00000511370.1:c.692G>A
ENST00000621085.4:c.520G>A	ENSP00000483421.1:p.Ala174Thr
ENST00000621628.4:c.520G>A	ENSP00000480485.1:p.Ala174Thr
NM_000477.5:c.1159G>A	NP_000468.1:p.Ala387Thr
NM_000477.6:c.1159G>A	NP_000468.1:p.Ala387Thr
NM_000477.7:c.1159G>A MANE Select	NP_000468.1:p.Ala387Thr