Canonical Allele Identifier: CA15092604

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 1177815
• ClinVar RCV Id: RCV001533974
• dbSNP Id: rs74937660
• gnomAD v2: 1-24192379-G-C
• gnomAD v3: 1-23865889-G-C
• gnomAD v4: 1-23865889-G-C
• MyVariant Identifiers: chr1:g.24192379G>C (hg19) ; chr1:g.23865889G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865889G>C , CM000663.2:g.23865889G>C	GRCh38
NC_000001.10:g.24192379G>C , CM000663.1:g.24192379G>C	GRCh37
NC_000001.9:g.24064966G>C	NCBI36
NG_013346.1:g.7481C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.390-264C>G MANE Select	ENSP00000363603.3:n.390-264C>G
ENST00000374479.3:c.390-264C>G	ENSP00000363603.3:n.390-264C>G
NM_000147.4:c.390-264C>G	NP_000138.2:n.390-264C>G
XM_005245821.1:c.15-264C>G	XP_005245878.1:n.15-264C>G
XM_011541167.1:c.-245+21C>G	XP_011539469.1:n.-245+21C>G
XM_005245821.3:c.15-264C>G	XP_005245878.1:n.15-264C>G
XM_011541167.3:c.-245+21C>G	XP_011539469.1:n.-245+21C>G
XM_017000905.2:c.87-264C>G	XP_016856394.1:n.87-264C>G
NM_000147.5:c.390-264C>G MANE Select	NP_000138.2:n.390-264C>G
NR_174379.1:n.568-264C>G
NR_174380.1:n.617-264C>G
NR_174381.1:n.455+21C>G
NR_174382.1:n.852+21C>G