Canonical Allele Identifier: CA1211968215

Gene: NCF2 SMG7

Linked Data

• dbSNP Id: rs1673604371
• gnomAD v4: 1-183590709-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183590709G>T , CM000663.2:g.183590709G>T	GRCh38
NC_000001.10:g.183559844G>T , CM000663.1:g.183559844G>T	GRCh37
NC_000001.9:g.181826467G>T	NCBI36
NG_007267.1:g.4873C>A , LRG_88:g.4873C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697330.1:c.-31+131C>A (NCF2)	ENSP00000513258.1:n.-31+131C>A
ENST00000367536.5:c.-31+131C>A (NCF2)	ENSP00000356506.1:n.-31+131C>A
ENST00000495321.1:n.234-7060G>T (SMG7)
NM_001127651.2:c.-31+131C>A (NCF2)	NP_001121123.1:n.-31+131C>A
NM_001127651.3:c.-31+131C>A (NCF2)	NP_001121123.1:n.-31+131C>A