Canonical Allele Identifier: CA686532
Gene: FUCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1046866
ClinVar RCV Id: RCV001351482
dbSNP Id: rs754110650
ExAC: 1:24192013 C / G
gnomAD v2: 1-24192013-C-G
gnomAD v3: 1-23865523-C-G
gnomAD v4: 1-23865523-C-G
MyVariant Identifiers: chr1:g.24192013C>G (hg19) chr1:g.23865523C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23865523C>G , CM000663.2:g.23865523C>G GRCh38
NC_000001.10:g.24192013C>G , CM000663.1:g.24192013C>G GRCh37
NC_000001.9:g.24064600C>G NCBI36
NG_013346.1:g.7847G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.492G>C MANE Select ENSP00000363603.3:p.Leu164Phe
ENST00000374479.3:c.492G>C ENSP00000363603.3:p.Leu164Phe
NM_000147.4:c.492G>C NP_000138.2:p.Leu164Phe
XM_005245821.1:c.117G>C XP_005245878.1:p.Leu39Phe
XM_011541167.1:c.-142G>C XP_011539469.1:n.-142G>C
XM_005245821.3:c.117G>C XP_005245878.1:p.Leu39Phe
XM_011541167.3:c.-142G>C XP_011539469.1:n.-142G>C
XM_017000905.2:c.189G>C XP_016856394.1:p.Leu63Phe
NM_000147.5:c.492G>C MANE Select NP_000138.2:p.Leu164Phe
NR_174379.1:n.670G>C
NR_174380.1:n.719G>C
NR_174381.1:n.558G>C
NR_174382.1:n.955G>C
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