Canonical Allele Identifier: CA2959751

Gene: ALB

Linked Data

• dbSNP Id: rs201202407
• ExAC: 4:74285983 G / C
• gnomAD v2: 4-74285983-G-C
• gnomAD v3: 4-73420266-G-C
• gnomAD v4: 4-73420266-G-C
• MyVariant Identifiers: chr4:g.74285983G>C (hg19) ; chr4:g.73420266G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.73420266G>C , CM000666.2:g.73420266G>C	GRCh38
NC_000004.11:g.74285983G>C , CM000666.1:g.74285983G>C	GRCh37
NC_000004.10:g.74504847G>C	NCBI36
NG_009291.1:g.21012G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295897.9:c.1798G>C MANE Select	ENSP00000295897.4:p.Val600Leu
ENST00000295897.8:c.1798G>C	ENSP00000295897.4:p.Val600Leu
ENST00000401494.7:c.1453G>C	ENSP00000384695.3:p.Val485Leu
ENST00000415165.6:c.1222G>C	ENSP00000401820.2:p.Val408Leu
ENST00000476441.6:c.*1077G>C	ENSP00000423727.1:n.*1077G>C
ENST00000495173.1:n.106G>C
ENST00000503124.5:c.1348G>C	ENSP00000421027.1:p.Val450Leu
ENST00000505649.5:n.1345G>C
ENST00000508932.5:n.188G>C
ENST00000509063.5:c.1785+627G>C	ENSP00000422784.1:n.1785+627G>C
ENST00000511370.1:c.1331G>C
ENST00000621085.4:c.1159G>C	ENSP00000483421.1:p.Val387Leu
ENST00000621628.4:c.1159G>C	ENSP00000480485.1:p.Val387Leu
NM_000477.5:c.1798G>C	NP_000468.1:p.Val600Leu
NM_000477.6:c.1798G>C	NP_000468.1:p.Val600Leu
NM_000477.7:c.1798G>C MANE Select	NP_000468.1:p.Val600Leu