Canonical Allele Identifier: CA357241045

Gene: ALB

Linked Data

• dbSNP Id: rs778384979
• gnomAD v2: 4-74280758-G-C
• gnomAD v4: 4-73415041-G-C
• MyVariant Identifiers: chr4:g.74280758G>C (hg19) ; chr4:g.73415041G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.73415041G>C , CM000666.2:g.73415041G>C	GRCh38
NC_000004.11:g.74280758G>C , CM000666.1:g.74280758G>C	GRCh37
NC_000004.10:g.74499622G>C	NCBI36
NG_009291.1:g.15787G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295897.9:c.1065G>C MANE Select	ENSP00000295897.4:p.Leu355Phe
ENST00000295897.8:c.1065G>C	ENSP00000295897.4:p.Leu355Phe
ENST00000401494.7:c.720G>C	ENSP00000384695.3:p.Leu240Phe
ENST00000415165.6:c.489G>C	ENSP00000401820.2:p.Leu163Phe
ENST00000476441.6:c.*344G>C	ENSP00000423727.1:n.*344G>C
ENST00000484992.1:n.385G>C
ENST00000503124.5:c.615G>C	ENSP00000421027.1:p.Leu205Phe
ENST00000504043.1:n.68G>C
ENST00000505649.5:n.751G>C
ENST00000509063.5:c.1065G>C	ENSP00000422784.1:p.Leu355Phe
ENST00000511370.1:c.598G>C
ENST00000621085.4:c.491-65G>C	ENSP00000483421.1:n.491-65G>C
ENST00000621628.4:c.487-61G>C	ENSP00000480485.1:n.487-61G>C
NM_000477.5:c.1065G>C	NP_000468.1:p.Leu355Phe
NM_000477.6:c.1065G>C	NP_000468.1:p.Leu355Phe
NM_000477.7:c.1065G>C MANE Select	NP_000468.1:p.Leu355Phe