Canonical Allele Identifier: CA19281449

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 3016239
• ClinVar RCV Id: RCV003876390
• dbSNP Id: rs200097772
• gnomAD v4: 1-23865474-C-A
• MyVariant Identifiers: chr1:g.24191964C>A (hg19) ; chr1:g.23865474C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865474C>A , CM000663.2:g.23865474C>A	GRCh38
NC_000001.10:g.24191964C>A , CM000663.1:g.24191964C>A	GRCh37
NC_000001.9:g.24064551C>A	NCBI36
NG_013346.1:g.7896G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.524+17G>T MANE Select	ENSP00000363603.3:n.524+17G>T
ENST00000374479.3:c.524+17G>T	ENSP00000363603.3:n.524+17G>T
NM_000147.4:c.524+17G>T	NP_000138.2:n.524+17G>T
XM_005245821.1:c.149+17G>T	XP_005245878.1:n.149+17G>T
XM_011541167.1:c.-110+17G>T	XP_011539469.1:n.-110+17G>T
XM_005245821.3:c.149+17G>T	XP_005245878.1:n.149+17G>T
XM_011541167.3:c.-110+17G>T	XP_011539469.1:n.-110+17G>T
XM_017000905.2:c.221+17G>T	XP_016856394.1:n.221+17G>T
NM_000147.5:c.524+17G>T MANE Select	NP_000138.2:n.524+17G>T
NR_174379.1:n.702+17G>T
NR_174380.1:n.751+17G>T
NR_174381.1:n.590+17G>T
NR_174382.1:n.987+17G>T