Canonical Allele Identifier: CA127941
Gene: ALB HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.73418211G>A
GRCh37 chr4:g.74283928G>A
Revel Score:
ENST00000295897 (MANE Select) 0.516
ENST00000415165 0.516
ENST00000329326 0.516
ENST00000503124 0.516
ENST00000509063 0.516
ENST00000401494 0.516
ENST00000430202 0.516
ENST00000511370 0.353
gnomAD v2:
4:74283928 G / A
gnomAD v3:
4:73418211 G / A
gnomAD v4:
chr4-73418211-G-A
Joint Max Group AF 0.00003666 (NFE)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00003804 (NFE)
ClinVar RCV:
RCV000019880
RCV001152821
ClinVar Variation:
18219
dbSNP:
75920790
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.73418211G>A , CM000666.2:g.73418211G>A GRCh38
NC_000004.11:g.74283928G>A , CM000666.1:g.74283928G>A GRCh37
NC_000004.10:g.74502792G>A NCBI36
NG_009291.1:g.18957G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295897.9:c.1552G>A MANE Select ENSP00000295897.4:p.Asp518Asn
ENST00000295897.8:c.1552G>A ENSP00000295897.4:p.Asp518Asn
ENST00000401494.7:c.1207G>A ENSP00000384695.3:p.Asp403Asn
ENST00000415165.6:c.976G>A ENSP00000401820.2:p.Asp326Asn
ENST00000476441.6:c.*831G>A ENSP00000423727.1:n.*831G>A
ENST00000486939.1:n.206G>A
ENST00000503124.5:c.1102G>A ENSP00000421027.1:p.Asp368Asn
ENST00000505649.5:n.1099G>A
ENST00000509063.5:c.1552G>A ENSP00000422784.1:p.Asp518Asn
ENST00000511370.1:c.1085G>A
ENST00000621085.4:c.913G>A ENSP00000483421.1:p.Asp305Asn
ENST00000621628.4:c.913G>A ENSP00000480485.1:p.Asp305Asn
NM_000477.5:c.1552G>A NP_000468.1:p.Asp518Asn
NM_000477.6:c.1552G>A NP_000468.1:p.Asp518Asn
NM_000477.7:c.1552G>A MANE Select NP_000468.1:p.Asp518Asn
Search 100 bp 5'
Search 100 bp 3'