Canonical Allele Identifier: CA10608452

Gene: NCF2 SMG7

Linked Data

• ClinVar Variation Id: 294082
• ClinVar RCV Id: RCV000270890
• dbSNP Id: rs886045656
• gnomAD v4: 1-183563528-C-T
• MyVariant Identifiers: chr1:g.183532663C>T (hg19) ; chr1:g.183563528C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183563528C>T , CM000663.2:g.183563528C>T	GRCh38
NC_000001.10:g.183532663C>T , CM000663.1:g.183532663C>T	GRCh37
NC_000001.9:g.181799286C>T	NCBI36
NG_007267.1:g.32054G>A , LRG_88:g.32054G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000469280.2:n.524G>A (NCF2)
ENST00000697329.1:n.1004G>A (NCF2)
ENST00000697330.1:c.1084G>A (NCF2)	ENSP00000513258.1:p.Val362Ile
ENST00000697351.1:c.976G>A (NCF2)	ENSP00000513276.1:p.Val326Ile
ENST00000367535.8:c.1084G>A (NCF2) MANE Select	ENSP00000356505.4:p.Val362Ile
ENST00000367535.7:c.1084G>A (NCF2)	ENSP00000356505.3:p.Val362Ile
ENST00000367536.5:c.1084G>A (NCF2)	ENSP00000356506.1:p.Val362Ile
ENST00000413720.5:c.949G>A (NCF2)	ENSP00000399294.1:p.Val317Ile
ENST00000418089.5:c.841G>A (NCF2)	ENSP00000407217.1:p.Val281Ile
ENST00000419402.1:c.301G>A (NCF2)	ENSP00000406198.1:p.Val101Ile
ENST00000420553.5:c.37G>A (NCF2)	ENSP00000397228.1:p.Val13Ile
ENST00000469280.1:n.524G>A (NCF2)
ENST00000495321.1:n.233+12338C>T (SMG7)
NM_000433.3:c.1084G>A , LRG_88t1:c.1084G>A (NCF2)	NP_000424.2:p.Val362Ile
NM_001127651.2:c.1084G>A (NCF2)	NP_001121123.1:p.Val362Ile
NM_001190789.1:c.841G>A (NCF2)	NP_001177718.1:p.Val281Ile
NM_001190794.1:c.949G>A (NCF2)	NP_001177723.1:p.Val317Ile
XM_005245207.1:c.976G>A (NCF2)	XP_005245264.1:p.Val326Ile
XM_011509580.1:c.1084G>A (NCF2)	XP_011507882.1:p.Val362Ile
XM_011509581.1:c.1084G>A (NCF2)	XP_011507883.1:p.Val362Ile
XR_921801.1:n.1146G>A (NCF2)
NM_000433.4:c.1084G>A (NCF2) MANE Select	NP_000424.2:p.Val362Ile
NM_001127651.3:c.1084G>A (NCF2)	NP_001121123.1:p.Val362Ile
NM_001190789.2:c.841G>A (NCF2)	NP_001177718.1:p.Val281Ile
NM_001190794.2:c.949G>A (NCF2)	NP_001177723.1:p.Val317Ile