Canonical Allele Identifier: CA249304

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 218428
• ClinVar RCV Id: RCV000203098 ; RCV003407716 ; RCV003597966
• dbSNP Id: rs864309551
• gnomAD v4: 1-23848727-C-T
• MyVariant Identifiers: chr1:g.24175217C>T (hg19) ; chr1:g.23848727C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1082G>A MANE Select	ENSP00000363603.3:p.Trp361Ter
ENST00000374479.3:c.1082G>A	ENSP00000363603.3:p.Trp361Ter
NM_000147.4:c.1082G>A	NP_000138.2:p.Trp361Ter
XM_005245821.1:c.707G>A	XP_005245878.1:p.Trp236Ter
XM_011541167.1:c.449G>A	XP_011539469.1:p.Trp150Ter
XM_005245821.3:c.707G>A	XP_005245878.1:p.Trp236Ter
XM_011541167.3:c.449G>A	XP_011539469.1:p.Trp150Ter
XM_017000905.2:c.779G>A	XP_016856394.1:p.Trp260Ter
NM_000147.5:c.1082G>A MANE Select	NP_000138.2:p.Trp361Ter
NR_174379.1:n.1260G>A
NR_174380.1:n.1309G>A
NR_174381.1:n.1148G>A
NR_174382.1:n.1545G>A