Canonical Allele Identifier: CA686650

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 296895
• ClinVar RCV Id: RCV000358584 ; RCV000421432 ; RCV003930235
• dbSNP Id: rs61996282
• ExAC: 1:24194770 C / G
• gnomAD v2: 1-24194770-C-G
• gnomAD v3: 1-23868280-C-G
• gnomAD v4: 1-23868280-C-G
• MyVariant Identifiers: chr1:g.24194770C>G (hg19) ; chr1:g.23868280C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23868280C>G , CM000663.2:g.23868280C>G	GRCh38
NC_000001.10:g.24194770C>G , CM000663.1:g.24194770C>G	GRCh37
NC_000001.9:g.24067357C>G	NCBI36
NG_013346.1:g.5090G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.7G>C MANE Select	ENSP00000363603.3:p.Ala3Pro
ENST00000374479.3:c.7G>C	ENSP00000363603.3:p.Ala3Pro
NM_000147.4:c.7G>C	NP_000138.2:p.Ala3Pro
XM_005245821.1:c.-543G>C	XP_005245878.1:n.-543G>C
XM_005245821.3:c.-543G>C	XP_005245878.1:n.-543G>C
NM_000147.5:c.7G>C MANE Select	NP_000138.2:p.Ala3Pro
NR_174379.1:n.11G>C
NR_174380.1:n.11G>C
NR_174381.1:n.11G>C
NR_174382.1:n.11G>C