Canonical Allele Identifier: CA114440
Gene: FUCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 686
ClinVar RCV Id: RCV000000721
dbSNP Id: rs80358197
gnomAD v2: 1-24175139-C-T
gnomAD v4: 1-23848649-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23848649C>T , CM000663.2:g.23848649C>T GRCh38
NC_000001.10:g.24175139C>T , CM000663.1:g.24175139C>T GRCh37
NC_000001.9:g.24047726C>T NCBI36
NG_013346.1:g.24721G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.1160G>A MANE Select ENSP00000363603.3:p.Trp387Ter
ENST00000374479.3:c.1160G>A ENSP00000363603.3:p.Trp387Ter
NM_000147.4:c.1160G>A NP_000138.2:p.Trp387Ter
XM_005245821.1:c.785G>A XP_005245878.1:p.Trp262Ter
XM_011541167.1:c.527G>A XP_011539469.1:p.Trp176Ter
XM_005245821.3:c.785G>A XP_005245878.1:p.Trp262Ter
XM_011541167.3:c.527G>A XP_011539469.1:p.Trp176Ter
XM_017000905.2:c.857G>A XP_016856394.1:p.Trp286Ter
NM_000147.5:c.1160G>A MANE Select NP_000138.2:p.Trp387Ter
NR_174379.1:n.1338G>A
NR_174380.1:n.1387G>A
NR_174381.1:n.1226G>A
NR_174382.1:n.1623G>A