Canonical Allele Identifier: CA892215823

Gene: NCF2 SMG7

Linked Data

• dbSNP Id: rs1199214056
• gnomAD v4: 1-183590705-T-A
• MyVariant Identifiers: chr1:g.183559840T>A (hg19) ; chr1:g.183590705T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183590705T>A , CM000663.2:g.183590705T>A	GRCh38
NC_000001.10:g.183559840T>A , CM000663.1:g.183559840T>A	GRCh37
NC_000001.9:g.181826463T>A	NCBI36
NG_007267.1:g.4877A>T , LRG_88:g.4877A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697330.1:c.-31+135A>T (NCF2)	ENSP00000513258.1:n.-31+135A>T
ENST00000697353.1:n.1A>T (NCF2)
ENST00000367536.5:c.-31+135A>T (NCF2)	ENSP00000356506.1:n.-31+135A>T
ENST00000495321.1:n.234-7064T>A (SMG7)
NM_001127651.2:c.-31+135A>T (NCF2)	NP_001121123.1:n.-31+135A>T
XM_011509580.1:c.-113A>T (NCF2)	XP_011507882.1:n.-113A>T
NM_001127651.3:c.-31+135A>T (NCF2)	NP_001121123.1:n.-31+135A>T