Canonical Allele Identifier: CA686548
Gene: FUCA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.23865593C>A
GRCh37 chr1:g.24192083C>A
Revel Score:
ENST00000374479 (MANE Select) 0.938
gnomAD v2:
1:24192083 C / A
gnomAD v3:
1:23865593 C / A
gnomAD v4:
chr1-23865593-C-A
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000578355
ClinVar Variation:
488520
dbSNP:
753232669
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23865593C>A , CM000663.2:g.23865593C>A GRCh38
NC_000001.10:g.24192083C>A , CM000663.1:g.24192083C>A GRCh37
NC_000001.9:g.24064670C>A NCBI36
NG_013346.1:g.7777G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.422G>T MANE Select ENSP00000363603.3:p.Gly141Val
ENST00000374479.3:c.422G>T ENSP00000363603.3:p.Gly141Val
NM_000147.4:c.422G>T NP_000138.2:p.Gly141Val
XM_005245821.1:c.47G>T XP_005245878.1:p.Gly16Val
XM_011541167.1:c.-212G>T XP_011539469.1:n.-212G>T
XM_005245821.3:c.47G>T XP_005245878.1:p.Gly16Val
XM_011541167.3:c.-212G>T XP_011539469.1:n.-212G>T
XM_017000905.2:c.119G>T XP_016856394.1:p.Gly40Val
NM_000147.5:c.422G>T MANE Select NP_000138.2:p.Gly141Val
NR_174379.1:n.600G>T
NR_174380.1:n.649G>T
NR_174381.1:n.488G>T
NR_174382.1:n.885G>T
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