Canonical Allele Identifier: CA2959393

Gene: ALB

Linked Data

• ClinVar Variation Id: 349620
• ClinVar RCV Id: RCV000271849 ; RCV000962988
• dbSNP Id: rs58639526
• ExAC: 4:74275201 A / G
• gnomAD v2: 4-74275201-A-G
• gnomAD v3: 4-73409484-A-G
• gnomAD v4: 4-73409484-A-G
• MyVariant Identifiers: chr4:g.74275201A>G (hg19) ; chr4:g.73409484A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.73409484A>G , CM000666.2:g.73409484A>G	GRCh38
NC_000004.11:g.74275201A>G , CM000666.1:g.74275201A>G	GRCh37
NC_000004.10:g.74494065A>G	NCBI36
NG_009291.1:g.10230A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295897.9:c.612A>G MANE Select	ENSP00000295897.4:p.Pro204=
ENST00000295897.8:c.612A>G	ENSP00000295897.4:p.Pro204=
ENST00000401494.7:c.267A>G	ENSP00000384695.3:p.Pro89=
ENST00000415165.6:c.138-2512A>G	ENSP00000401820.2:n.138-2512A>G
ENST00000476441.6:c.209A>G	ENSP00000423727.1:p.Gln70Arg
ENST00000503124.5:c.162A>G	ENSP00000421027.1:p.Pro54=
ENST00000505649.5:n.298A>G
ENST00000509063.5:c.612A>G	ENSP00000422784.1:p.Pro204=
ENST00000511370.1:c.145A>G
ENST00000621085.4:c.490+122A>G	ENSP00000483421.1:n.490+122A>G
ENST00000621628.4:c.486+408A>G	ENSP00000480485.1:n.486+408A>G
NM_000477.5:c.612A>G	NP_000468.1:p.Pro204=
NM_000477.6:c.612A>G	NP_000468.1:p.Pro204=
NM_000477.7:c.612A>G MANE Select	NP_000468.1:p.Pro204=