Canonical Allele Identifier: CA127957
Gene: ALB HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.73413476G>C
GRCh37 chr4:g.74279193G>C
Revel Score:
ENST00000511370 0.090
ENST00000295897 (MANE Select) 0.269
ENST00000415165 0.269
ENST00000503124 0.269
ENST00000509063 0.269
ENST00000401494 0.269
ENST00000430202 0.269
gnomAD v3:
4:73413476 G / C
gnomAD v4:
chr4-73413476-G-C
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000019889
ClinVar Variation:
18228
dbSNP:
74718349
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.73413476G>C , CM000666.2:g.73413476G>C GRCh38
NC_000004.11:g.74279193G>C , CM000666.1:g.74279193G>C GRCh37
NC_000004.10:g.74498057G>C NCBI36
NG_009291.1:g.14222G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295897.9:c.900G>C MANE Select ENSP00000295897.4:p.Lys300Asn
ENST00000295897.8:c.900G>C ENSP00000295897.4:p.Lys300Asn
ENST00000401494.7:c.555G>C ENSP00000384695.3:p.Lys185Asn
ENST00000415165.6:c.324G>C ENSP00000401820.2:p.Lys108Asn
ENST00000476441.6:c.*179G>C ENSP00000423727.1:n.*179G>C
ENST00000484992.1:n.220G>C
ENST00000503124.5:c.450G>C ENSP00000421027.1:p.Lys150Asn
ENST00000505649.5:n.586G>C
ENST00000509063.5:c.900G>C ENSP00000422784.1:p.Lys300Asn
ENST00000511370.1:c.433G>C
ENST00000621085.4:c.491-1630G>C ENSP00000483421.1:n.491-1630G>C
ENST00000621628.4:c.487-1626G>C ENSP00000480485.1:n.487-1626G>C
NM_000477.5:c.900G>C NP_000468.1:p.Lys300Asn
NM_000477.6:c.900G>C NP_000468.1:p.Lys300Asn
NM_000477.7:c.900G>C MANE Select NP_000468.1:p.Lys300Asn
Search 100 bp 5'
Search 100 bp 3'