Canonical Allele Identifier: CA114434
Gene: FUCA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.23845837G>A
GRCh37 chr1:g.24172327G>A
gnomAD v2:
1:24172327 G / A
gnomAD v3:
1:23845837 G / A
gnomAD v4:
chr1-23845837-G-A
Joint Max Group AF 0.00001962 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001914 (NFE)
ClinVar Allele:
15720
ClinVar RCV:
RCV000000716
ClinVar Variation:
681
dbSNP:
118204450
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23845837G>A , CM000663.2:g.23845837G>A GRCh38
NC_000001.10:g.24172327G>A , CM000663.1:g.24172327G>A GRCh37
NC_000001.9:g.24044914G>A NCBI36
NG_013346.1:g.27533C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.1279C>T MANE Select ENSP00000363603.3:p.Gln427Ter
ENST00000374479.3:c.1279C>T ENSP00000363603.3:p.Gln427Ter
NM_000147.4:c.1279C>T NP_000138.2:p.Gln427Ter
XM_005245821.1:c.904C>T XP_005245878.1:p.Gln302Ter
XM_011541167.1:c.646C>T XP_011539469.1:p.Gln216Ter
XM_005245821.3:c.904C>T XP_005245878.1:p.Gln302Ter
XM_011541167.3:c.646C>T XP_011539469.1:p.Gln216Ter
XM_017000905.2:c.976C>T XP_016856394.1:p.Gln326Ter
NM_000147.5:c.1279C>T MANE Select NP_000138.2:p.Gln427Ter
NR_174379.1:n.1457C>T
NR_174380.1:n.1506C>T
NR_174381.1:n.1345C>T
NR_174382.1:n.1742C>T
Search 100 bp 5'
Search 100 bp 3'