Canonical Allele Identifier: CA127972
Gene: ALB HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.73418166G>A
GRCh37 chr4:g.74283883G>A
Revel Score:
ENST00000295897 (MANE Select) 0.254
ENST00000415165 0.254
ENST00000329326 0.254
ENST00000503124 0.254
ENST00000509063 0.254
ENST00000401494 0.254
ENST00000430202 0.254
ENST00000511370 0.156
gnomAD v4:
chr4-73418166-G-A
Joint Max Group AF 0.00000247 (NFE)
Exomes Max Group AF 0.00000262 (NFE)
ClinVar RCV:
RCV000019897
ClinVar Variation:
18236
dbSNP:
80259813
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.73418166G>A , CM000666.2:g.73418166G>A GRCh38
NC_000004.11:g.74283883G>A , CM000666.1:g.74283883G>A GRCh37
NC_000004.10:g.74502747G>A NCBI36
NG_009291.1:g.18912G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295897.9:c.1507G>A MANE Select ENSP00000295897.4:p.Glu503Lys
ENST00000295897.8:c.1507G>A ENSP00000295897.4:p.Glu503Lys
ENST00000401494.7:c.1162G>A ENSP00000384695.3:p.Glu388Lys
ENST00000415165.6:c.931G>A ENSP00000401820.2:p.Glu311Lys
ENST00000476441.6:c.*786G>A ENSP00000423727.1:n.*786G>A
ENST00000486939.1:n.161G>A
ENST00000503124.5:c.1057G>A ENSP00000421027.1:p.Glu353Lys
ENST00000505649.5:n.1054G>A
ENST00000509063.5:c.1507G>A ENSP00000422784.1:p.Glu503Lys
ENST00000511370.1:c.1040G>A
ENST00000621085.4:c.868G>A ENSP00000483421.1:p.Glu290Lys
ENST00000621628.4:c.868G>A ENSP00000480485.1:p.Glu290Lys
NM_000477.5:c.1507G>A NP_000468.1:p.Glu503Lys
NM_000477.6:c.1507G>A NP_000468.1:p.Glu503Lys
NM_000477.7:c.1507G>A MANE Select NP_000468.1:p.Glu503Lys
Search 100 bp 5'
Search 100 bp 3'