Canonical Allele Identifier: CA127951
Gene: ALB HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.73412007G>A
GRCh37 chr4:g.74277724G>A
Revel Score:
ENST00000295897 (MANE Select) 0.485
ENST00000415165 0.485
ENST00000503124 0.485
ENST00000509063 0.485
ENST00000401494 0.485
ENST00000430202 0.485
gnomAD v2:
4:74277724 G / A
gnomAD v3:
4:73412007 G / A
gnomAD v4:
chr4-73412007-G-A
Joint Max Group AF 0.00015352 (AMR)
Genomes Max Group AF 0.00012864 (AMR)
Exomes Max Group AF 0.00012058 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.73412007G>A , CM000666.2:g.73412007G>A GRCh38
NC_000004.11:g.74277724G>A , CM000666.1:g.74277724G>A GRCh37
NC_000004.10:g.74496588G>A NCBI36
NG_009291.1:g.12753G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295897.9:c.725G>A MANE Select ENSP00000295897.4:p.Arg242His
ENST00000295897.8:c.725G>A ENSP00000295897.4:p.Arg242His
ENST00000401494.7:c.380G>A ENSP00000384695.3:p.Arg127His
ENST00000415165.6:c.149G>A ENSP00000401820.2:p.Arg50His
ENST00000476441.6:c.*4G>A ENSP00000423727.1:n.*4G>A
ENST00000503124.5:c.275G>A ENSP00000421027.1:p.Arg92His
ENST00000505649.5:n.411G>A
ENST00000507673.1:n.42G>A
ENST00000509063.5:c.725G>A ENSP00000422784.1:p.Arg242His
ENST00000511370.1:c.258G>A
ENST00000621085.4:c.490+2645G>A ENSP00000483421.1:n.490+2645G>A
ENST00000621628.4:c.486+2931G>A ENSP00000480485.1:n.486+2931G>A
NM_000477.5:c.725G>A NP_000468.1:p.Arg242His
NM_000477.6:c.725G>A NP_000468.1:p.Arg242His
NM_000477.7:c.725G>A MANE Select NP_000468.1:p.Arg242His
Search 100 bp 5'
Search 100 bp 3'