Canonical Allele Identifier: CA127948
Gene: ALB HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.73412072A>G
GRCh37 chr4:g.74277789A>G
Revel Score:
ENST00000295897 (MANE Select) 0.253
ENST00000415165 0.253
ENST00000503124 0.253
ENST00000509063 0.253
ENST00000401494 0.253
ENST00000430202 0.253
ENST00000511370 0.198
gnomAD v2:
4:74277789 A / G
gnomAD v3:
4:73412072 A / G
gnomAD v4:
chr4-73412072-A-G
Joint Max Group AF 0.00001883 (NFE)
Exomes Max Group AF 0.00001914 (NFE)
ClinVar RCV:
RCV000019884
ClinVar Variation:
18223
dbSNP:
79377490
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.73412072A>G , CM000666.2:g.73412072A>G GRCh38
NC_000004.11:g.74277789A>G , CM000666.1:g.74277789A>G GRCh37
NC_000004.10:g.74496653A>G NCBI36
NG_009291.1:g.12818A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295897.9:c.790A>G MANE Select ENSP00000295897.4:p.Lys264Glu
ENST00000295897.8:c.790A>G ENSP00000295897.4:p.Lys264Glu
ENST00000401494.7:c.445A>G ENSP00000384695.3:p.Lys149Glu
ENST00000415165.6:c.214A>G ENSP00000401820.2:p.Lys72Glu
ENST00000476441.6:c.*69A>G ENSP00000423727.1:n.*69A>G
ENST00000503124.5:c.340A>G ENSP00000421027.1:p.Lys114Glu
ENST00000505649.5:n.476A>G
ENST00000507673.1:n.107A>G
ENST00000509063.5:c.790A>G ENSP00000422784.1:p.Lys264Glu
ENST00000511370.1:c.323A>G
ENST00000621085.4:c.490+2710A>G ENSP00000483421.1:n.490+2710A>G
ENST00000621628.4:c.486+2996A>G ENSP00000480485.1:n.486+2996A>G
NM_000477.5:c.790A>G NP_000468.1:p.Lys264Glu
NM_000477.6:c.790A>G NP_000468.1:p.Lys264Glu
NM_000477.7:c.790A>G MANE Select NP_000468.1:p.Lys264Glu
Search 100 bp 5'
Search 100 bp 3'