Canonical Allele Identifier: CA347123810

Gene: NFU1

Linked Data

• ClinVar Variation Id: 488564
• ClinVar RCV Id: RCV000578338
• dbSNP Id: rs1354126704
• gnomAD v2: 2-69633155-G-A
• gnomAD v3: 2-69406023-G-A
• gnomAD v4: 2-69406023-G-A
• COSMIC: COSM6356117
• MyVariant Identifiers: chr2:g.69633155G>A (hg19) ; chr2:g.69406023G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.69406023G>A , CM000664.2:g.69406023G>A	GRCh38
NC_000002.11:g.69633155G>A , CM000664.1:g.69633155G>A	GRCh37
NC_000002.10:g.69486659G>A	NCBI36
NG_031931.1:g.36606C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000410022.7:c.544C>T MANE Select	ENSP00000387219.3:p.Arg182Trp
ENST00000303698.7:c.472C>T	ENSP00000306965.3:p.Arg158Trp
ENST00000394305.5:c.121C>T	ENSP00000377842.1:p.Arg41Trp
ENST00000410022.6:c.544C>T	ENSP00000387219.2:p.Arg182Trp
ENST00000450796.6:c.121C>T	ENSP00000415102.2:p.Arg41Trp
ENST00000462320.5:c.121C>T	ENSP00000418598.1:p.Arg41Trp
ENST00000471185.5:n.421C>T
ENST00000474230.5:c.175C>T	ENSP00000418882.1:p.Arg59Trp
ENST00000484177.5:c.121C>T	ENSP00000417693.1:p.Arg41Trp
NM_001002755.2:c.544C>T	NP_001002755.1:p.Arg182Trp
NM_001002756.2:c.121C>T	NP_001002756.1:p.Arg41Trp
NM_015700.3:c.472C>T	NP_056515.2:p.Arg158Trp
NR_045631.1:n.614C>T
NR_045632.1:n.614C>T
XM_017003808.2:c.472C>T	XP_016859297.1:p.Arg158Trp
NM_001002755.4:c.544C>T MANE Select	NP_001002755.1:p.Arg182Trp
NM_001374284.1:c.472C>T	NP_001361213.1:p.Arg158Trp
NM_015700.4:c.472C>T	NP_056515.2:p.Arg158Trp
NR_045631.2:n.421C>T
NR_045632.2:n.421C>T