Canonical Allele Identifier: CA686529

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 2909612
• ClinVar RCV Id: RCV003598652
• dbSNP Id: rs752715443
• ExAC: 1:24191989 G / C
• gnomAD v2: 1-24191989-G-C
• gnomAD v3: 1-23865499-G-C
• gnomAD v4: 1-23865499-G-C
• MyVariant Identifiers: chr1:g.24191989G>C (hg19) ; chr1:g.23865499G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865499G>C , CM000663.2:g.23865499G>C	GRCh38
NC_000001.10:g.24191989G>C , CM000663.1:g.24191989G>C	GRCh37
NC_000001.9:g.24064576G>C	NCBI36
NG_013346.1:g.7871C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.516C>G MANE Select	ENSP00000363603.3:p.Leu172=
ENST00000374479.3:c.516C>G	ENSP00000363603.3:p.Leu172=
NM_000147.4:c.516C>G	NP_000138.2:p.Leu172=
XM_005245821.1:c.141C>G	XP_005245878.1:p.Leu47=
XM_011541167.1:c.-118C>G	XP_011539469.1:n.-118C>G
XM_005245821.3:c.141C>G	XP_005245878.1:p.Leu47=
XM_011541167.3:c.-118C>G	XP_011539469.1:n.-118C>G
XM_017000905.2:c.213C>G	XP_016856394.1:p.Leu71=
NM_000147.5:c.516C>G MANE Select	NP_000138.2:p.Leu172=
NR_174379.1:n.694C>G
NR_174380.1:n.743C>G
NR_174381.1:n.582C>G
NR_174382.1:n.979C>G