Canonical Allele Identifier: CA114436
Gene: FUCA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.23848671C>A
GRCh37 chr1:g.24175161C>A
gnomAD v2:
1:24175161 C / A
gnomAD v3:
1:23848671 C / A
gnomAD v4:
chr1-23848671-C-A
Joint Max Group AF 0.00002255 (AMR)
Genomes Max Group AF 0.00002264 (AMR)
Exomes Max Group AF 0.00000741 (AMR)
ClinVar Allele:
15722
ClinVar RCV:
RCV000000718
RCV003159089
ClinVar Variation:
683
dbSNP:
80358195
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23848671C>A , CM000663.2:g.23848671C>A GRCh38
NC_000001.10:g.24175161C>A , CM000663.1:g.24175161C>A GRCh37
NC_000001.9:g.24047748C>A NCBI36
NG_013346.1:g.24699G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.1138G>T MANE Select ENSP00000363603.3:p.Glu380Ter
ENST00000374479.3:c.1138G>T ENSP00000363603.3:p.Glu380Ter
NM_000147.4:c.1138G>T NP_000138.2:p.Glu380Ter
XM_005245821.1:c.763G>T XP_005245878.1:p.Glu255Ter
XM_011541167.1:c.505G>T XP_011539469.1:p.Glu169Ter
XM_005245821.3:c.763G>T XP_005245878.1:p.Glu255Ter
XM_011541167.3:c.505G>T XP_011539469.1:p.Glu169Ter
XM_017000905.2:c.835G>T XP_016856394.1:p.Glu279Ter
NM_000147.5:c.1138G>T MANE Select NP_000138.2:p.Glu380Ter
NR_174379.1:n.1316G>T
NR_174380.1:n.1365G>T
NR_174381.1:n.1204G>T
NR_174382.1:n.1601G>T
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