Canonical Allele Identifier: CA686653
Gene: FUCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1321454
ClinVar RCV Id: RCV001779548 RCV002034541
dbSNP Id: rs558338123
ExAC: 1:24194776 T / C
gnomAD v2: 1-24194776-T-C
gnomAD v3: 1-23868286-T-C
gnomAD v4: 1-23868286-T-C
COSMIC: COSM5705354
MyVariant Identifiers: chr1:g.24194776T>C (hg19) chr1:g.23868286T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868286T>C , CM000663.2:g.23868286T>C GRCh38
NC_000001.10:g.24194776T>C , CM000663.1:g.24194776T>C GRCh37
NC_000001.9:g.24067363T>C NCBI36
NG_013346.1:g.5084A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.1A>G MANE Select ENSP00000363603.3:p.Met1Val
ENST00000374479.3:c.1A>G ENSP00000363603.3:p.Met1Val
NM_000147.4:c.1A>G NP_000138.2:p.Met1Val
XM_005245821.1:c.-549A>G XP_005245878.1:n.-549A>G
XM_005245821.3:c.-549A>G XP_005245878.1:n.-549A>G
NM_000147.5:c.1A>G MANE Select NP_000138.2:p.Met1Val
NR_174379.1:n.5A>G
NR_174380.1:n.5A>G
NR_174381.1:n.5A>G
NR_174382.1:n.5A>G
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