Canonical Allele Identifier: CA339007281

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 806089
• ClinVar RCV Id: RCV000993945 ; RCV002549845
• dbSNP Id: rs1352828947
• gnomAD v3: 1-23865493-C-A
• gnomAD v4: 1-23865493-C-A
• MyVariant Identifiers: chr1:g.24191983C>A (hg19) ; chr1:g.23865493C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865493C>A , CM000663.2:g.23865493C>A	GRCh38
NC_000001.10:g.24191983C>A , CM000663.1:g.24191983C>A	GRCh37
NC_000001.9:g.24064570C>A	NCBI36
NG_013346.1:g.7877G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.522G>T MANE Select	ENSP00000363603.3:p.Lys174Asn
ENST00000374479.3:c.522G>T	ENSP00000363603.3:p.Lys174Asn
NM_000147.4:c.522G>T	NP_000138.2:p.Lys174Asn
XM_005245821.1:c.147G>T	XP_005245878.1:p.Lys49Asn
XM_011541167.1:c.-112G>T	XP_011539469.1:n.-112G>T
XM_005245821.3:c.147G>T	XP_005245878.1:p.Lys49Asn
XM_011541167.3:c.-112G>T	XP_011539469.1:n.-112G>T
XM_017000905.2:c.219G>T	XP_016856394.1:p.Lys73Asn
NM_000147.5:c.522G>T MANE Select	NP_000138.2:p.Lys174Asn
NR_174379.1:n.700G>T
NR_174380.1:n.749G>T
NR_174381.1:n.588G>T
NR_174382.1:n.985G>T