Canonical Allele Identifier: CA686356

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 1418772
• ClinVar RCV Id: RCV001931030
• dbSNP Id: rs548735209
• ExAC: 1:24175173 G / A
• gnomAD v2: 1-24175173-G-A
• gnomAD v3: 1-23848683-G-A
• gnomAD v4: 1-23848683-G-A
• MyVariant Identifiers: chr1:g.24175173G>A (hg19) ; chr1:g.23848683G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848683G>A , CM000663.2:g.23848683G>A	GRCh38
NC_000001.10:g.24175173G>A , CM000663.1:g.24175173G>A	GRCh37
NC_000001.9:g.24047760G>A	NCBI36
NG_013346.1:g.24687C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.1126C>T MANE Select	ENSP00000363603.3:p.Arg376Trp
ENST00000374479.3:c.1126C>T	ENSP00000363603.3:p.Arg376Trp
NM_000147.4:c.1126C>T	NP_000138.2:p.Arg376Trp
XM_005245821.1:c.751C>T	XP_005245878.1:p.Arg251Trp
XM_011541167.1:c.493C>T	XP_011539469.1:p.Arg165Trp
XM_005245821.3:c.751C>T	XP_005245878.1:p.Arg251Trp
XM_011541167.3:c.493C>T	XP_011539469.1:p.Arg165Trp
XM_017000905.2:c.823C>T	XP_016856394.1:p.Arg275Trp
NM_000147.5:c.1126C>T MANE Select	NP_000138.2:p.Arg376Trp
NR_174379.1:n.1304C>T
NR_174380.1:n.1353C>T
NR_174381.1:n.1192C>T
NR_174382.1:n.1589C>T