Canonical Allele Identifier: CA127918
Gene: ALB HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.73419613G>A
GRCh37 chr4:g.74285330G>A
Revel Score:
ENST00000295897 (MANE Select) 0.119
ENST00000415165 0.119
ENST00000329326 0.119
ENST00000503124 0.119
ENST00000509063 0.119
ENST00000401494 0.119
ENST00000430202 0.119
ENST00000511370 0.012
gnomAD v2:
4:74285330 G / A
gnomAD v3:
4:73419613 G / A
gnomAD v4:
chr4-73419613-G-A
Joint Max Group AF 0.00007736 (AMR)
Genomes Max Group AF 0.00012887 (AMR)
Exomes Max Group AF 0.00002985 (AMR)
ClinVar RCV:
RCV000019858
ClinVar Variation:
18205
dbSNP:
76587671
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.73419613G>A , CM000666.2:g.73419613G>A GRCh38
NC_000004.11:g.74285330G>A , CM000666.1:g.74285330G>A GRCh37
NC_000004.10:g.74504194G>A NCBI36
NG_009291.1:g.20359G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295897.9:c.1759G>A MANE Select ENSP00000295897.4:p.Asp587Asn
ENST00000295897.8:c.1759G>A ENSP00000295897.4:p.Asp587Asn
ENST00000401494.7:c.1414G>A ENSP00000384695.3:p.Asp472Asn
ENST00000415165.6:c.1183G>A ENSP00000401820.2:p.Asp395Asn
ENST00000476441.6:c.*1038G>A ENSP00000423727.1:n.*1038G>A
ENST00000495173.1:n.67G>A
ENST00000503124.5:c.1309G>A ENSP00000421027.1:p.Asp437Asn
ENST00000505649.5:n.1306G>A
ENST00000508932.5:n.175+158G>A
ENST00000509063.5:c.1759G>A ENSP00000422784.1:p.Asp587Asn
ENST00000511370.1:c.1292G>A
ENST00000621085.4:c.1120G>A ENSP00000483421.1:p.Asp374Asn
ENST00000621628.4:c.1120G>A ENSP00000480485.1:p.Asp374Asn
NM_000477.5:c.1759G>A NP_000468.1:p.Asp587Asn
NM_000477.6:c.1759G>A NP_000468.1:p.Asp587Asn
NM_000477.7:c.1759G>A MANE Select NP_000468.1:p.Asp587Asn
Search 100 bp 5'
Search 100 bp 3'