Canonical Allele Identifier: CA19322661

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 2082511
• ClinVar RCV Id: RCV003007295
• dbSNP Id: rs984479234
• gnomAD v2: 1-24175176-A-G
• gnomAD v3: 1-23848686-A-G
• gnomAD v4: 1-23848686-A-G
• MyVariant Identifiers: chr1:g.24175176A>G (hg19) ; chr1:g.23848686A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848686A>G , CM000663.2:g.23848686A>G	GRCh38
NC_000001.10:g.24175176A>G , CM000663.1:g.24175176A>G	GRCh37
NC_000001.9:g.24047763A>G	NCBI36
NG_013346.1:g.24684T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.1123T>C MANE Select	ENSP00000363603.3:p.Trp375Arg
ENST00000374479.3:c.1123T>C	ENSP00000363603.3:p.Trp375Arg
NM_000147.4:c.1123T>C	NP_000138.2:p.Trp375Arg
XM_005245821.1:c.748T>C	XP_005245878.1:p.Trp250Arg
XM_011541167.1:c.490T>C	XP_011539469.1:p.Trp164Arg
XM_005245821.3:c.748T>C	XP_005245878.1:p.Trp250Arg
XM_011541167.3:c.490T>C	XP_011539469.1:p.Trp164Arg
XM_017000905.2:c.820T>C	XP_016856394.1:p.Trp274Arg
NM_000147.5:c.1123T>C MANE Select	NP_000138.2:p.Trp375Arg
NR_174379.1:n.1301T>C
NR_174380.1:n.1350T>C
NR_174381.1:n.1189T>C
NR_174382.1:n.1586T>C