Canonical Allele Identifier: CA99707128

Gene: ALB

Linked Data

• ClinVar Variation Id: 2901598
• ClinVar RCV Id: RCV003731359
• dbSNP Id: rs1037277082
• gnomAD v2: 4-74280760-A-G
• gnomAD v3: 4-73415043-A-G
• gnomAD v4: 4-73415043-A-G
• MyVariant Identifiers: chr4:g.74280760A>G (hg19) ; chr4:g.73415043A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.73415043A>G , CM000666.2:g.73415043A>G	GRCh38
NC_000004.11:g.74280760A>G , CM000666.1:g.74280760A>G	GRCh37
NC_000004.10:g.74499624A>G	NCBI36
NG_009291.1:g.15789A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295897.9:c.1067A>G MANE Select	ENSP00000295897.4:p.Tyr356Cys
ENST00000295897.8:c.1067A>G	ENSP00000295897.4:p.Tyr356Cys
ENST00000401494.7:c.722A>G	ENSP00000384695.3:p.Tyr241Cys
ENST00000415165.6:c.491A>G	ENSP00000401820.2:p.Tyr164Cys
ENST00000476441.6:c.*346A>G	ENSP00000423727.1:n.*346A>G
ENST00000484992.1:n.387A>G
ENST00000503124.5:c.617A>G	ENSP00000421027.1:p.Tyr206Cys
ENST00000504043.1:n.70A>G
ENST00000505649.5:n.753A>G
ENST00000509063.5:c.1067A>G	ENSP00000422784.1:p.Tyr356Cys
ENST00000511370.1:c.600A>G
ENST00000621085.4:c.491-63A>G	ENSP00000483421.1:n.491-63A>G
ENST00000621628.4:c.487-59A>G	ENSP00000480485.1:n.487-59A>G
NM_000477.5:c.1067A>G	NP_000468.1:p.Tyr356Cys
NM_000477.6:c.1067A>G	NP_000468.1:p.Tyr356Cys
NM_000477.7:c.1067A>G MANE Select	NP_000468.1:p.Tyr356Cys