Canonical Allele Identifier: CA19322738

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 2185537
• ClinVar RCV Id: RCV002596198
• dbSNP Id: rs864309551
• gnomAD v2: 1-24175217-C-A
• gnomAD v3: 1-23848727-C-A
• gnomAD v4: 1-23848727-C-A
• MyVariant Identifiers: chr1:g.24175217C>A (hg19) ; chr1:g.23848727C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848727C>A , CM000663.2:g.23848727C>A	GRCh38
NC_000001.10:g.24175217C>A , CM000663.1:g.24175217C>A	GRCh37
NC_000001.9:g.24047804C>A	NCBI36
NG_013346.1:g.24643G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1082G>T MANE Select	ENSP00000363603.3:p.Trp361Leu
ENST00000374479.3:c.1082G>T	ENSP00000363603.3:p.Trp361Leu
NM_000147.4:c.1082G>T	NP_000138.2:p.Trp361Leu
XM_005245821.1:c.707G>T	XP_005245878.1:p.Trp236Leu
XM_011541167.1:c.449G>T	XP_011539469.1:p.Trp150Leu
XM_005245821.3:c.707G>T	XP_005245878.1:p.Trp236Leu
XM_011541167.3:c.449G>T	XP_011539469.1:p.Trp150Leu
XM_017000905.2:c.779G>T	XP_016856394.1:p.Trp260Leu
NM_000147.5:c.1082G>T MANE Select	NP_000138.2:p.Trp361Leu
NR_174379.1:n.1260G>T
NR_174380.1:n.1309G>T
NR_174381.1:n.1148G>T
NR_174382.1:n.1545G>T