Canonical Allele Identifier: CA686355

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 558913
• ClinVar RCV Id: RCV000675662 ; RCV001078564 ; RCV003953228
• dbSNP Id: rs145603001
• ExAC: 1:24175172 C / T
• gnomAD v2: 1-24175172-C-T
• gnomAD v3: 1-23848682-C-T
• gnomAD v4: 1-23848682-C-T
• MyVariant Identifiers: chr1:g.24175172C>T (hg19) ; chr1:g.23848682C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848682C>T , CM000663.2:g.23848682C>T	GRCh38
NC_000001.10:g.24175172C>T , CM000663.1:g.24175172C>T	GRCh37
NC_000001.9:g.24047759C>T	NCBI36
NG_013346.1:g.24688G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.1127G>A MANE Select	ENSP00000363603.3:p.Arg376Gln
ENST00000374479.3:c.1127G>A	ENSP00000363603.3:p.Arg376Gln
NM_000147.4:c.1127G>A	NP_000138.2:p.Arg376Gln
XM_005245821.1:c.752G>A	XP_005245878.1:p.Arg251Gln
XM_011541167.1:c.494G>A	XP_011539469.1:p.Arg165Gln
XM_005245821.3:c.752G>A	XP_005245878.1:p.Arg251Gln
XM_011541167.3:c.494G>A	XP_011539469.1:p.Arg165Gln
XM_017000905.2:c.824G>A	XP_016856394.1:p.Arg275Gln
NM_000147.5:c.1127G>A MANE Select	NP_000138.2:p.Arg376Gln
NR_174379.1:n.1305G>A
NR_174380.1:n.1354G>A
NR_174381.1:n.1193G>A
NR_174382.1:n.1590G>A