Canonical Allele Identifier: CA416626802

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 2137991
• ClinVar RCV Id: RCV003064430
• dbSNP Id: rs1443768545
• gnomAD v2: 1-24175210-G-A
• gnomAD v3: 1-23848720-G-A
• gnomAD v4: 1-23848720-G-A
• COSMIC: COSM2049970
• MyVariant Identifiers: chr1:g.24175210G>A (hg19) ; chr1:g.23848720G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848720G>A , CM000663.2:g.23848720G>A	GRCh38
NC_000001.10:g.24175210G>A , CM000663.1:g.24175210G>A	GRCh37
NC_000001.9:g.24047797G>A	NCBI36
NG_013346.1:g.24650C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1089C>T MANE Select	ENSP00000363603.3:p.Ser363=
ENST00000374479.3:c.1089C>T	ENSP00000363603.3:p.Ser363=
NM_000147.4:c.1089C>T	NP_000138.2:p.Ser363=
XM_005245821.1:c.714C>T	XP_005245878.1:p.Ser238=
XM_011541167.1:c.456C>T	XP_011539469.1:p.Ser152=
XM_005245821.3:c.714C>T	XP_005245878.1:p.Ser238=
XM_011541167.3:c.456C>T	XP_011539469.1:p.Ser152=
XM_017000905.2:c.786C>T	XP_016856394.1:p.Ser262=
NM_000147.5:c.1089C>T MANE Select	NP_000138.2:p.Ser363=
NR_174379.1:n.1267C>T
NR_174380.1:n.1316C>T
NR_174381.1:n.1155C>T
NR_174382.1:n.1552C>T