Canonical Allele Identifier: CA686602
Gene: FUCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2585036
ClinVar RCV Id: RCV003340936
dbSNP Id: rs781660340
ExAC: 1:24194561 C / T
gnomAD v2: 1-24194561-C-T
gnomAD v4: 1-23868071-C-T
MyVariant Identifiers: chr1:g.24194561C>T (hg19) chr1:g.23868071C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868071C>T , CM000663.2:g.23868071C>T GRCh38
NC_000001.10:g.24194561C>T , CM000663.1:g.24194561C>T GRCh37
NC_000001.9:g.24067148C>T NCBI36
NG_013346.1:g.5299G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.216G>A MANE Select ENSP00000363603.3:p.Trp72Ter
ENST00000374479.3:c.216G>A ENSP00000363603.3:p.Trp72Ter
NM_000147.4:c.216G>A NP_000138.2:p.Trp72Ter
XM_005245821.1:c.-334G>A XP_005245878.1:n.-334G>A
XM_005245821.3:c.-334G>A XP_005245878.1:n.-334G>A
NM_000147.5:c.216G>A MANE Select NP_000138.2:p.Trp72Ter
NR_174379.1:n.220G>A
NR_174380.1:n.220G>A
NR_174381.1:n.220G>A
NR_174382.1:n.220G>A
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