Canonical Allele Identifier: CA127900
Gene: ALB HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.73415120G>A
GRCh37 chr4:g.74280837G>A
Revel Score:
ENST00000295897 (MANE Select) 0.399
ENST00000415165 0.399
ENST00000329326 0.399
ENST00000503124 0.399
ENST00000509063 0.399
ENST00000401494 0.399
ENST00000430202 0.399
ENST00000511370 0.036
gnomAD v2:
4:74280837 G / A
gnomAD v3:
4:73415120 G / A
gnomAD v4:
chr4-73415120-G-A
Joint Max Group AF 0.00010202 (AMR)
Genomes Max Group AF 0.0000226 (AMR)
Exomes Max Group AF 0.0001043 (AMR)
ClinVar RCV:
RCV000019840
ClinVar Variation:
18196
dbSNP:
75791663
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.73415120G>A , CM000666.2:g.73415120G>A GRCh38
NC_000004.11:g.74280837G>A , CM000666.1:g.74280837G>A GRCh37
NC_000004.10:g.74499701G>A NCBI36
NG_009291.1:g.15866G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295897.9:c.1144G>A MANE Select ENSP00000295897.4:p.Glu382Lys
ENST00000295897.8:c.1144G>A ENSP00000295897.4:p.Glu382Lys
ENST00000401494.7:c.799G>A ENSP00000384695.3:p.Glu267Lys
ENST00000415165.6:c.568G>A ENSP00000401820.2:p.Glu190Lys
ENST00000476441.6:c.*423G>A ENSP00000423727.1:n.*423G>A
ENST00000484992.1:n.464G>A
ENST00000503124.5:c.694G>A ENSP00000421027.1:p.Glu232Lys
ENST00000504043.1:n.147G>A
ENST00000505649.5:n.830G>A
ENST00000509063.5:c.1144G>A ENSP00000422784.1:p.Glu382Lys
ENST00000511370.1:c.677G>A
ENST00000621085.4:c.505G>A ENSP00000483421.1:p.Glu169Lys
ENST00000621628.4:c.505G>A ENSP00000480485.1:p.Glu169Lys
NM_000477.5:c.1144G>A NP_000468.1:p.Glu382Lys
NM_000477.6:c.1144G>A NP_000468.1:p.Glu382Lys
NM_000477.7:c.1144G>A MANE Select NP_000468.1:p.Glu382Lys
Search 100 bp 5'
Search 100 bp 3'