Canonical Allele Identifier: CA127892
Gene: ALB HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.73413587G>T
GRCh37 chr4:g.74279304G>T
Revel Score:
ENST00000295897 (MANE Select) 0.352
ENST00000415165 0.352
ENST00000503124 0.352
ENST00000509063 0.352
ENST00000401494 0.352
ENST00000430202 0.352
gnomAD v2:
4:74279304 G / T
gnomAD v3:
4:73413587 G / T
gnomAD v4:
chr4-73413587-G-T
Joint Max Group AF 0.00008839 (NFE)
Genomes Max Group AF 0.00009047 (NFE)
Exomes Max Group AF 0.00008395 (NFE)
ClinVar RCV:
RCV000019835
RCV001154833
ClinVar Variation:
18192
dbSNP:
72552710
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.73413587G>T , CM000666.2:g.73413587G>T GRCh38
NC_000004.11:g.74279304G>T , CM000666.1:g.74279304G>T GRCh37
NC_000004.10:g.74498168G>T NCBI36
NG_009291.1:g.14333G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295897.9:c.1011G>T MANE Select ENSP00000295897.4:p.Lys337Asn
ENST00000295897.8:c.1011G>T ENSP00000295897.4:p.Lys337Asn
ENST00000401494.7:c.666G>T ENSP00000384695.3:p.Lys222Asn
ENST00000415165.6:c.435G>T ENSP00000401820.2:p.Lys145Asn
ENST00000476441.6:c.*290G>T ENSP00000423727.1:n.*290G>T
ENST00000484992.1:n.331G>T
ENST00000503124.5:c.561G>T ENSP00000421027.1:p.Lys187Asn
ENST00000504043.1:n.14G>T
ENST00000505649.5:n.697G>T
ENST00000509063.5:c.1011G>T ENSP00000422784.1:p.Lys337Asn
ENST00000511370.1:c.544G>T
ENST00000621085.4:c.491-1519G>T ENSP00000483421.1:n.491-1519G>T
ENST00000621628.4:c.487-1515G>T ENSP00000480485.1:n.487-1515G>T
NM_000477.5:c.1011G>T NP_000468.1:p.Lys337Asn
NM_000477.6:c.1011G>T NP_000468.1:p.Lys337Asn
NM_000477.7:c.1011G>T MANE Select NP_000468.1:p.Lys337Asn
Search 100 bp 5'
Search 100 bp 3'