Canonical Allele Identifier: CA339008700
Gene: FUCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1387076
ClinVar RCV Id: RCV001905940
dbSNP Id: rs758745364
gnomAD v4: 1-23867927-C-A
MyVariant Identifiers: chr1:g.24194417C>A (hg19) chr1:g.23867927C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23867927C>A , CM000663.2:g.23867927C>A GRCh38
NC_000001.10:g.24194417C>A , CM000663.1:g.24194417C>A GRCh37
NC_000001.9:g.24067004C>A NCBI36
NG_013346.1:g.5443G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.360G>T MANE Select ENSP00000363603.3:p.Trp120Cys
ENST00000374479.3:c.360G>T ENSP00000363603.3:p.Trp120Cys
NM_000147.4:c.360G>T NP_000138.2:p.Trp120Cys
XM_005245821.1:c.-190G>T XP_005245878.1:n.-190G>T
XM_005245821.3:c.-190G>T XP_005245878.1:n.-190G>T
NM_000147.5:c.360G>T MANE Select NP_000138.2:p.Trp120Cys
NR_174379.1:n.364G>T
NR_174380.1:n.364G>T
NR_174381.1:n.364G>T
NR_174382.1:n.364G>T
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