Canonical Allele Identifier: CA114438
Gene: FUCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 685
ClinVar RCV Id: RCV000000720
dbSNP Id: rs80358196
ExAC: 1:24194533 G / A
gnomAD v2: 1-24194533-G-A
gnomAD v3: 1-23868043-G-A
gnomAD v4: 1-23868043-G-A
MyVariant Identifiers: chr1:g.24194533G>A (hg19) chr1:g.23868043G>A (hg38)
PubMed: PMID:8401503
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868043G>A , CM000663.2:g.23868043G>A GRCh38
NC_000001.10:g.24194533G>A , CM000663.1:g.24194533G>A GRCh37
NC_000001.9:g.24067120G>A NCBI36
NG_013346.1:g.5327C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.244C>T MANE Select ENSP00000363603.3:p.Gln82Ter
ENST00000374479.3:c.244C>T ENSP00000363603.3:p.Gln82Ter
NM_000147.4:c.244C>T NP_000138.2:p.Gln82Ter
XM_005245821.1:c.-306C>T XP_005245878.1:n.-306C>T
XM_005245821.3:c.-306C>T XP_005245878.1:n.-306C>T
NM_000147.5:c.244C>T MANE Select NP_000138.2:p.Gln82Ter
NR_174379.1:n.248C>T
NR_174380.1:n.248C>T
NR_174381.1:n.248C>T
NR_174382.1:n.248C>T
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