Canonical Allele Identifier: CA2959448

Gene: ALB

Linked Data

• dbSNP Id: rs76454301
• ExAC: 4:74277713 G / C
• gnomAD v2: 4-74277713-G-C
• gnomAD v4: 4-73411996-G-C
• MyVariant Identifiers: chr4:g.74277713G>C (hg19) ; chr4:g.73411996G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.73411996G>C , CM000666.2:g.73411996G>C	GRCh38
NC_000004.11:g.74277713G>C , CM000666.1:g.74277713G>C	GRCh37
NC_000004.10:g.74496577G>C	NCBI36
NG_009291.1:g.12742G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295897.9:c.714G>C MANE Select	ENSP00000295897.4:p.Trp238Cys
ENST00000295897.8:c.714G>C	ENSP00000295897.4:p.Trp238Cys
ENST00000401494.7:c.369G>C	ENSP00000384695.3:p.Trp123Cys
ENST00000415165.6:c.138G>C	ENSP00000401820.2:p.Leu46Phe
ENST00000476441.6:c.311G>C	ENSP00000423727.1:p.Gly104Ala
ENST00000503124.5:c.264G>C	ENSP00000421027.1:p.Trp88Cys
ENST00000505649.5:n.400G>C
ENST00000507673.1:n.31G>C
ENST00000509063.5:c.714G>C	ENSP00000422784.1:p.Trp238Cys
ENST00000511370.1:c.247G>C
ENST00000621085.4:c.490+2634G>C	ENSP00000483421.1:n.490+2634G>C
ENST00000621628.4:c.486+2920G>C	ENSP00000480485.1:n.486+2920G>C
NM_000477.5:c.714G>C	NP_000468.1:p.Trp238Cys
NM_000477.6:c.714G>C	NP_000468.1:p.Trp238Cys
NM_000477.7:c.714G>C MANE Select	NP_000468.1:p.Trp238Cys