Canonical Allele Identifier: CA2959670

Gene: ALB

Linked Data

• dbSNP Id: rs146129389
• ExAC: 4:74283824 A / G
• gnomAD v2: 4-74283824-A-G
• gnomAD v3: 4-73418107-A-G
• gnomAD v4: 4-73418107-A-G
• MyVariant Identifiers: chr4:g.74283824A>G (hg19) ; chr4:g.73418107A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.73418107A>G , CM000666.2:g.73418107A>G	GRCh38
NC_000004.11:g.74283824A>G , CM000666.1:g.74283824A>G	GRCh37
NC_000004.10:g.74502688A>G	NCBI36
NG_009291.1:g.18853A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295897.9:c.1448A>G MANE Select	ENSP00000295897.4:p.Gln483Arg
ENST00000295897.8:c.1448A>G	ENSP00000295897.4:p.Gln483Arg
ENST00000401494.7:c.1103A>G	ENSP00000384695.3:p.Gln368Arg
ENST00000415165.6:c.872A>G	ENSP00000401820.2:p.Gln291Arg
ENST00000476441.6:c.*727A>G	ENSP00000423727.1:n.*727A>G
ENST00000486939.1:n.102A>G
ENST00000503124.5:c.998A>G	ENSP00000421027.1:p.Gln333Arg
ENST00000505649.5:n.995A>G
ENST00000509063.5:c.1448A>G	ENSP00000422784.1:p.Gln483Arg
ENST00000511370.1:c.981A>G
ENST00000621085.4:c.809A>G	ENSP00000483421.1:p.Gln270Arg
ENST00000621628.4:c.809A>G	ENSP00000480485.1:p.Gln270Arg
NM_000477.5:c.1448A>G	NP_000468.1:p.Gln483Arg
NM_000477.6:c.1448A>G	NP_000468.1:p.Gln483Arg
NM_000477.7:c.1448A>G MANE Select	NP_000468.1:p.Gln483Arg