Canonical Allele Identifier: CA170816

Gene: ALB

Linked Data

• ClinVar Variation Id: 156313
• ClinVar RCV Id: RCV000144397 ; RCV000987452
• dbSNP Id: rs78284052
• ExAC: 4:74285240 G / A
• gnomAD v2: 4-74285240-G-A
• gnomAD v3: 4-73419523-G-A
• gnomAD v4: 4-73419523-G-A
• MyVariant Identifiers: chr4:g.74285240G>A (hg19) ; chr4:g.73419523G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.73419523G>A , CM000666.2:g.73419523G>A	GRCh38
NC_000004.11:g.74285240G>A , CM000666.1:g.74285240G>A	GRCh37
NC_000004.10:g.74504104G>A	NCBI36
NG_009291.1:g.20269G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295897.9:c.1669G>A MANE Select	ENSP00000295897.4:p.Val557Met
ENST00000295897.8:c.1669G>A	ENSP00000295897.4:p.Val557Met
ENST00000401494.7:c.1324G>A	ENSP00000384695.3:p.Val442Met
ENST00000415165.6:c.1093G>A	ENSP00000401820.2:p.Val365Met
ENST00000476441.6:c.*948G>A	ENSP00000423727.1:n.*948G>A
ENST00000486939.1:n.323G>A
ENST00000503124.5:c.1219G>A	ENSP00000421027.1:p.Val407Met
ENST00000505649.5:n.1216G>A
ENST00000508932.5:n.175+68G>A
ENST00000509063.5:c.1669G>A	ENSP00000422784.1:p.Val557Met
ENST00000511370.1:c.1202G>A
ENST00000621085.4:c.1030G>A	ENSP00000483421.1:p.Val344Met
ENST00000621628.4:c.1030G>A	ENSP00000480485.1:p.Val344Met
NM_000477.5:c.1669G>A	NP_000468.1:p.Val557Met
NM_000477.6:c.1669G>A	NP_000468.1:p.Val557Met
NM_000477.7:c.1669G>A MANE Select	NP_000468.1:p.Val557Met