Canonical Allele Identifier: CA170808
Gene: ALB HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.73416259G>C
GRCh37 chr4:g.74281976G>C
Revel Score:
ENST00000295897 (MANE Select) 0.304
ENST00000415165 0.304
ENST00000329326 0.304
ENST00000503124 0.304
ENST00000509063 0.304
ENST00000401494 0.304
ENST00000430202 0.304
ENST00000511370 0.113
gnomAD v4:
chr4-73416259-G-C
Joint Max Group AF 0.00000689 (NFE)
Exomes Max Group AF 0.00000731 (NFE)
ClinVar RCV:
RCV000144392
ClinVar Variation:
156308
dbSNP:
77514449
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000295897.9:c.1195G>C MANE Select ENSP00000295897.4:p.Asp399His
ENST00000295897.8:c.1195G>C ENSP00000295897.4:p.Asp399His
ENST00000401494.7:c.850G>C ENSP00000384695.3:p.Asp284His
ENST00000415165.6:c.619G>C ENSP00000401820.2:p.Asp207His
ENST00000476441.6:c.*474G>C ENSP00000423727.1:n.*474G>C
ENST00000484992.1:n.515G>C
ENST00000503124.5:c.745G>C ENSP00000421027.1:p.Asp249His
ENST00000505649.5:n.881G>C
ENST00000509063.5:c.1195G>C ENSP00000422784.1:p.Asp399His
ENST00000511370.1:c.728G>C
ENST00000621085.4:c.556G>C ENSP00000483421.1:p.Asp186His
ENST00000621628.4:c.556G>C ENSP00000480485.1:p.Asp186His
NM_000477.5:c.1195G>C NP_000468.1:p.Asp399His
NM_000477.6:c.1195G>C NP_000468.1:p.Asp399His
NM_000477.7:c.1195G>C MANE Select NP_000468.1:p.Asp399His
Search 100 bp 5'
Search 100 bp 3'