Canonical Allele Identifier: CA212793

Gene: NCF2 SMG7

Linked Data

• ClinVar Variation Id: 2243
• ClinVar RCV Id: RCV000002331 ; RCV000522170
• dbSNP Id: rs796065032
• gnomAD v3: 1-183577598-C-T
• gnomAD v4: 1-183577598-C-T
• MyVariant Identifiers: chr1:g.183546733C>T (hg19) ; chr1:g.183577598C>T (hg38)
• PubMed: PMID:10498624

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183577598C>T , CM000663.2:g.183577598C>T	GRCh38
NC_000001.10:g.183546733C>T , CM000663.1:g.183546733C>T	GRCh37
NC_000001.9:g.181813356C>T	NCBI36
NG_007267.1:g.17984G>A , LRG_88:g.17984G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697329.1:n.286+1G>A (NCF2)
ENST00000697330.1:c.366+1G>A (NCF2)	ENSP00000513258.1:n.366+1G>A
ENST00000697351.1:c.366+1G>A (NCF2)	ENSP00000513276.1:n.366+1G>A
ENST00000697352.1:n.466+1G>A (NCF2)
ENST00000697353.1:n.479+1G>A (NCF2)
ENST00000367535.8:c.366+1G>A (NCF2) MANE Select	ENSP00000356505.4:n.366+1G>A
ENST00000367535.7:c.366+1G>A (NCF2)	ENSP00000356505.3:n.366+1G>A
ENST00000367536.5:c.366+1G>A (NCF2)	ENSP00000356506.1:n.366+1G>A
ENST00000413720.5:c.366+1G>A (NCF2)	ENSP00000399294.1:n.366+1G>A
ENST00000418089.5:c.366+1G>A (NCF2)	ENSP00000407217.1:n.366+1G>A
ENST00000495321.1:n.234-20171C>T (SMG7)
NM_000433.3:c.366+1G>A , LRG_88t1:c.366+1G>A (NCF2)	NP_000424.2:n.366+1G>A
NM_001127651.2:c.366+1G>A (NCF2)	NP_001121123.1:n.366+1G>A
NM_001190789.1:c.366+1G>A (NCF2)	NP_001177718.1:n.366+1G>A
NM_001190794.1:c.366+1G>A (NCF2)	NP_001177723.1:n.366+1G>A
XM_005245207.1:c.366+1G>A (NCF2)	XP_005245264.1:n.366+1G>A
XM_011509580.1:c.366+1G>A (NCF2)	XP_011507882.1:n.366+1G>A
XM_011509581.1:c.366+1G>A (NCF2)	XP_011507883.1:n.366+1G>A
XR_921801.1:n.570+1G>A (NCF2)
NM_000433.4:c.366+1G>A (NCF2) MANE Select	NP_000424.2:n.366+1G>A
NM_001127651.3:c.366+1G>A (NCF2)	NP_001121123.1:n.366+1G>A
NM_001190789.2:c.366+1G>A (NCF2)	NP_001177718.1:n.366+1G>A
NM_001190794.2:c.366+1G>A (NCF2)	NP_001177723.1:n.366+1G>A