Canonical Allele Identifier: CA686350

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 296885
• ClinVar RCV Id: RCV000291128 ; RCV000675661 ; RCV003920202
• dbSNP Id: rs114490852
• ExAC: 1:24175151 G / A
• gnomAD v2: 1-24175151-G-A
• gnomAD v3: 1-23848661-G-A
• gnomAD v4: 1-23848661-G-A
• MyVariant Identifiers: chr1:g.24175151G>A (hg19) ; chr1:g.23848661G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848661G>A , CM000663.2:g.23848661G>A	GRCh38
NC_000001.10:g.24175151G>A , CM000663.1:g.24175151G>A	GRCh37
NC_000001.9:g.24047738G>A	NCBI36
NG_013346.1:g.24709C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1148C>T MANE Select	ENSP00000363603.3:p.Thr383Ile
ENST00000374479.3:c.1148C>T	ENSP00000363603.3:p.Thr383Ile
NM_000147.4:c.1148C>T	NP_000138.2:p.Thr383Ile
XM_005245821.1:c.773C>T	XP_005245878.1:p.Thr258Ile
XM_011541167.1:c.515C>T	XP_011539469.1:p.Thr172Ile
XM_005245821.3:c.773C>T	XP_005245878.1:p.Thr258Ile
XM_011541167.3:c.515C>T	XP_011539469.1:p.Thr172Ile
XM_017000905.2:c.845C>T	XP_016856394.1:p.Thr282Ile
NM_000147.5:c.1148C>T MANE Select	NP_000138.2:p.Thr383Ile
NR_174379.1:n.1326C>T
NR_174380.1:n.1375C>T
NR_174381.1:n.1214C>T
NR_174382.1:n.1611C>T