Canonical Allele Identifier: CA2959673

Gene: ALB

Linked Data

• ClinVar Variation Id: 2589128
• ClinVar RCV Id: RCV003363315
• dbSNP Id: rs140110916
• ExAC: 4:74283840 T / A
• gnomAD v2: 4-74283840-T-A
• gnomAD v3: 4-73418123-T-A
• gnomAD v4: 4-73418123-T-A
• MyVariant Identifiers: chr4:g.74283840T>A (hg19) ; chr4:g.73418123T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.73418123T>A , CM000666.2:g.73418123T>A	GRCh38
NC_000004.11:g.74283840T>A , CM000666.1:g.74283840T>A	GRCh37
NC_000004.10:g.74502704T>A	NCBI36
NG_009291.1:g.18869T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295897.9:c.1464T>A MANE Select	ENSP00000295897.4:p.His488Gln
ENST00000295897.8:c.1464T>A	ENSP00000295897.4:p.His488Gln
ENST00000401494.7:c.1119T>A	ENSP00000384695.3:p.His373Gln
ENST00000415165.6:c.888T>A	ENSP00000401820.2:p.His296Gln
ENST00000476441.6:c.*743T>A	ENSP00000423727.1:n.*743T>A
ENST00000486939.1:n.118T>A
ENST00000503124.5:c.1014T>A	ENSP00000421027.1:p.His338Gln
ENST00000505649.5:n.1011T>A
ENST00000509063.5:c.1464T>A	ENSP00000422784.1:p.His488Gln
ENST00000511370.1:c.997T>A
ENST00000621085.4:c.825T>A	ENSP00000483421.1:p.His275Gln
ENST00000621628.4:c.825T>A	ENSP00000480485.1:p.His275Gln
NM_000477.5:c.1464T>A	NP_000468.1:p.His488Gln
NM_000477.6:c.1464T>A	NP_000468.1:p.His488Gln
NM_000477.7:c.1464T>A MANE Select	NP_000468.1:p.His488Gln