Canonical Allele Identifier: CA127912
Gene: ALB HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.73418232G>A
GRCh37 chr4:g.74283949G>A
Revel Score:
ENST00000295897 (MANE Select) 0.320
ENST00000415165 0.320
ENST00000329326 0.320
ENST00000503124 0.320
ENST00000509063 0.320
ENST00000401494 0.320
ENST00000430202 0.320
ENST00000511370 0.080
gnomAD v2:
4:74283949 G / A
gnomAD v3:
4:73418232 G / A
gnomAD v4:
chr4-73418232-G-A
Joint Max Group AF 0.0009737 (SAS)
Genomes Max Group AF 0.00007287 (SAS)
Exomes Max Group AF 0.00100723 (SAS)
ClinVar RCV:
RCV000019851
ClinVar Variation:
18202
dbSNP:
75523493
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.73418232G>A , CM000666.2:g.73418232G>A GRCh38
NC_000004.11:g.74283949G>A , CM000666.1:g.74283949G>A GRCh37
NC_000004.10:g.74502813G>A NCBI36
NG_009291.1:g.18978G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295897.9:c.1573G>A MANE Select ENSP00000295897.4:p.Glu525Lys
ENST00000295897.8:c.1573G>A ENSP00000295897.4:p.Glu525Lys
ENST00000401494.7:c.1228G>A ENSP00000384695.3:p.Glu410Lys
ENST00000415165.6:c.997G>A ENSP00000401820.2:p.Glu333Lys
ENST00000476441.6:c.*852G>A ENSP00000423727.1:n.*852G>A
ENST00000486939.1:n.227G>A
ENST00000503124.5:c.1123G>A ENSP00000421027.1:p.Glu375Lys
ENST00000505649.5:n.1120G>A
ENST00000509063.5:c.1573G>A ENSP00000422784.1:p.Glu525Lys
ENST00000511370.1:c.1106G>A
ENST00000621085.4:c.934G>A ENSP00000483421.1:p.Glu312Lys
ENST00000621628.4:c.934G>A ENSP00000480485.1:p.Glu312Lys
NM_000477.5:c.1573G>A NP_000468.1:p.Glu525Lys
NM_000477.6:c.1573G>A NP_000468.1:p.Glu525Lys
NM_000477.7:c.1573G>A MANE Select NP_000468.1:p.Glu525Lys
Search 100 bp 5'
Search 100 bp 3'