Canonical Allele Identifier: CA2649486373

Gene: NCF2 SMG7

Linked Data

• gnomAD v4: 1-183590717-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183590717T>G , CM000663.2:g.183590717T>G	GRCh38
NC_000001.10:g.183559852T>G , CM000663.1:g.183559852T>G	GRCh37
NC_000001.9:g.181826475T>G	NCBI36
NG_007267.1:g.4865A>C , LRG_88:g.4865A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697330.1:c.-31+123A>C (NCF2)	ENSP00000513258.1:n.-31+123A>C
ENST00000367536.5:c.-31+123A>C (NCF2)	ENSP00000356506.1:n.-31+123A>C
ENST00000495321.1:n.234-7052T>G (SMG7)
NM_001127651.2:c.-31+123A>C (NCF2)	NP_001121123.1:n.-31+123A>C
NM_001127651.3:c.-31+123A>C (NCF2)	NP_001121123.1:n.-31+123A>C