Canonical Allele Identifier: CA1694141

Gene: NFU1

Linked Data

• ClinVar Variation Id: 488563
• ClinVar RCV Id: RCV000578252 ; RCV002298691
• dbSNP Id: rs756085990
• ExAC: 2:69633149 C / T
• gnomAD v2: 2-69633149-C-T
• gnomAD v3: 2-69406017-C-T
• gnomAD v4: 2-69406017-C-T
• MyVariant Identifiers: chr2:g.69633149C>T (hg19) ; chr2:g.69406017C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.69406017C>T , CM000664.2:g.69406017C>T	GRCh38
NC_000002.11:g.69633149C>T , CM000664.1:g.69633149C>T	GRCh37
NC_000002.10:g.69486653C>T	NCBI36
NG_031931.1:g.36612G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000410022.7:c.545+5G>A MANE Select	ENSP00000387219.3:n.545+5G>A
ENST00000303698.7:c.473+5G>A	ENSP00000306965.3:n.473+5G>A
ENST00000394305.5:c.122+5G>A	ENSP00000377842.1:n.122+5G>A
ENST00000410022.6:c.545+5G>A	ENSP00000387219.2:n.545+5G>A
ENST00000450796.6:c.122+5G>A	ENSP00000415102.2:n.122+5G>A
ENST00000462320.5:c.122+5G>A	ENSP00000418598.1:n.122+5G>A
ENST00000471185.5:n.422+5G>A
ENST00000474230.5:c.176+5G>A	ENSP00000418882.1:n.176+5G>A
ENST00000484177.5:c.122+5G>A	ENSP00000417693.1:n.122+5G>A
NM_001002755.2:c.545+5G>A	NP_001002755.1:n.545+5G>A
NM_001002756.2:c.122+5G>A	NP_001002756.1:n.122+5G>A
NM_015700.3:c.473+5G>A	NP_056515.2:n.473+5G>A
NR_045631.1:n.615+5G>A
NR_045632.1:n.615+5G>A
XM_017003808.2:c.473+5G>A	XP_016859297.1:n.473+5G>A
NM_001002755.4:c.545+5G>A MANE Select	NP_001002755.1:n.545+5G>A
NM_001374284.1:c.473+5G>A	NP_001361213.1:n.473+5G>A
NM_015700.4:c.473+5G>A	NP_056515.2:n.473+5G>A
NR_045631.2:n.422+5G>A
NR_045632.2:n.422+5G>A