Canonical Allele Identifier: CA686527
Gene: FUCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1384812
ClinVar RCV Id: RCV001924921
dbSNP Id: rs148194937
ExAC: 1:24191987 C / T
gnomAD v2: 1-24191987-C-T
gnomAD v3: 1-23865497-C-T
gnomAD v4: 1-23865497-C-T
MyVariant Identifiers: chr1:g.24191987C>T (hg19) chr1:g.23865497C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23865497C>T , CM000663.2:g.23865497C>T GRCh38
NC_000001.10:g.24191987C>T , CM000663.1:g.24191987C>T GRCh37
NC_000001.9:g.24064574C>T NCBI36
NG_013346.1:g.7873G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.518G>A MANE Select ENSP00000363603.3:p.Arg173Gln
ENST00000374479.3:c.518G>A ENSP00000363603.3:p.Arg173Gln
NM_000147.4:c.518G>A NP_000138.2:p.Arg173Gln
XM_005245821.1:c.143G>A XP_005245878.1:p.Arg48Gln
XM_011541167.1:c.-116G>A XP_011539469.1:n.-116G>A
XM_005245821.3:c.143G>A XP_005245878.1:p.Arg48Gln
XM_011541167.3:c.-116G>A XP_011539469.1:n.-116G>A
XM_017000905.2:c.215G>A XP_016856394.1:p.Arg72Gln
NM_000147.5:c.518G>A MANE Select NP_000138.2:p.Arg173Gln
NR_174379.1:n.696G>A
NR_174380.1:n.745G>A
NR_174381.1:n.584G>A
NR_174382.1:n.981G>A
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