Canonical Allele Identifier: CA357246646

Gene: ALB

Linked Data

• dbSNP Id: rs1377016643
• gnomAD v2: 4-74285338-G-T
• gnomAD v3: 4-73419621-G-T
• gnomAD v4: 4-73419621-G-T
• MyVariant Identifiers: chr4:g.74285338G>T (hg19) ; chr4:g.73419621G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.73419621G>T , CM000666.2:g.73419621G>T	GRCh38
NC_000004.11:g.74285338G>T , CM000666.1:g.74285338G>T	GRCh37
NC_000004.10:g.74504202G>T	NCBI36
NG_009291.1:g.20367G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295897.9:c.1767G>T MANE Select	ENSP00000295897.4:p.Glu589Asp
ENST00000295897.8:c.1767G>T	ENSP00000295897.4:p.Glu589Asp
ENST00000401494.7:c.1422G>T	ENSP00000384695.3:p.Glu474Asp
ENST00000415165.6:c.1191G>T	ENSP00000401820.2:p.Glu397Asp
ENST00000476441.6:c.*1046G>T	ENSP00000423727.1:n.*1046G>T
ENST00000495173.1:n.75G>T
ENST00000503124.5:c.1317G>T	ENSP00000421027.1:p.Glu439Asp
ENST00000505649.5:n.1314G>T
ENST00000508932.5:n.175+166G>T
ENST00000509063.5:c.1767G>T	ENSP00000422784.1:p.Glu589Asp
ENST00000511370.1:c.1300G>T
ENST00000621085.4:c.1128G>T	ENSP00000483421.1:p.Glu376Asp
ENST00000621628.4:c.1128G>T	ENSP00000480485.1:p.Glu376Asp
NM_000477.5:c.1767G>T	NP_000468.1:p.Glu589Asp
NM_000477.6:c.1767G>T	NP_000468.1:p.Glu589Asp
NM_000477.7:c.1767G>T MANE Select	NP_000468.1:p.Glu589Asp