Canonical Allele Identifier: CA357241319

Gene: ALB

Linked Data

• dbSNP Id: rs1718980685
• gnomAD v4: 4-73415112-C-A
• MyVariant Identifiers: chr4:g.74280829C>A (hg19) ; chr4:g.73415112C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.73415112C>A , CM000666.2:g.73415112C>A	GRCh38
NC_000004.11:g.74280829C>A , CM000666.1:g.74280829C>A	GRCh37
NC_000004.10:g.74499693C>A	NCBI36
NG_009291.1:g.15858C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295897.9:c.1136C>A MANE Select	ENSP00000295897.4:p.Thr379Asn
ENST00000295897.8:c.1136C>A	ENSP00000295897.4:p.Thr379Asn
ENST00000401494.7:c.791C>A	ENSP00000384695.3:p.Thr264Asn
ENST00000415165.6:c.560C>A	ENSP00000401820.2:p.Thr187Asn
ENST00000476441.6:c.*415C>A	ENSP00000423727.1:n.*415C>A
ENST00000484992.1:n.456C>A
ENST00000503124.5:c.686C>A	ENSP00000421027.1:p.Thr229Asn
ENST00000504043.1:n.139C>A
ENST00000505649.5:n.822C>A
ENST00000509063.5:c.1136C>A	ENSP00000422784.1:p.Thr379Asn
ENST00000511370.1:c.669C>A
ENST00000621085.4:c.497C>A	ENSP00000483421.1:p.Thr166Asn
ENST00000621628.4:c.497C>A	ENSP00000480485.1:p.Thr166Asn
NM_000477.5:c.1136C>A	NP_000468.1:p.Thr379Asn
NM_000477.6:c.1136C>A	NP_000468.1:p.Thr379Asn
NM_000477.7:c.1136C>A MANE Select	NP_000468.1:p.Thr379Asn