This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA127906
Gene: ALB HGNC NCBI
ClinVar RCV:
RCV000019846
RCV003556052
ClinVar Variation:
18199
COSMIC:
COSM5953214
dbSNP:
77514449
gnomAD v2:
4:74281976 G / A
gnomAD v3:
4:73416259 G / A
gnomAD v4:
chr4-73416259-G-A
Joint Max Group AF 0.00040172 (AFR)
Genomes Max Group AF 0.00035799 (AFR)
Exomes Max Group AF 0.00034763 (AFR)
MyVariant.info:
GRCh38 chr4:g.73416259G>A
GRCh37 chr4:g.74281976G>A
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.73416259G>A , CM000666.2:g.73416259G>A GRCh38
NC_000004.11:g.74281976G>A , CM000666.1:g.74281976G>A GRCh37
NC_000004.10:g.74500840G>A NCBI36
NG_009291.1:g.17005G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295897.9:c.1195G>A MANE Select ENSP00000295897.4:p.Asp399Asn
ENST00000295897.8:c.1195G>A ENSP00000295897.4:p.Asp399Asn
ENST00000401494.7:c.850G>A ENSP00000384695.3:p.Asp284Asn
ENST00000415165.6:c.619G>A ENSP00000401820.2:p.Asp207Asn
ENST00000476441.6:c.*474G>A ENSP00000423727.1:n.*474G>A
ENST00000484992.1:n.515G>A
ENST00000503124.5:c.745G>A ENSP00000421027.1:p.Asp249Asn
ENST00000505649.5:n.881G>A
ENST00000509063.5:c.1195G>A ENSP00000422784.1:p.Asp399Asn
ENST00000511370.1:c.728G>A
ENST00000621085.4:c.556G>A ENSP00000483421.1:p.Asp186Asn
ENST00000621628.4:c.556G>A ENSP00000480485.1:p.Asp186Asn
NM_000477.5:c.1195G>A NP_000468.1:p.Asp399Asn
NM_000477.6:c.1195G>A NP_000468.1:p.Asp399Asn
NM_000477.7:c.1195G>A MANE Select NP_000468.1:p.Asp399Asn
Search 100 bp 5'
Search 100 bp 3'