Canonical Allele Identifier: CA527612289

Gene: NCF2 SMG7

Linked Data

• dbSNP Id: rs1431696067
• gnomAD v2: 1-183559754-G-T
• gnomAD v3: 1-183590619-G-T
• gnomAD v4: 1-183590619-G-T
• MyVariant Identifiers: chr1:g.183559754G>T (hg19) ; chr1:g.183590619G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183590619G>T , CM000663.2:g.183590619G>T	GRCh38
NC_000001.10:g.183559754G>T , CM000663.1:g.183559754G>T	GRCh37
NC_000001.9:g.181826377G>T	NCBI36
NG_007267.1:g.4963C>A , LRG_88:g.4963C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697330.1:c.-31+221C>A (NCF2)	ENSP00000513258.1:n.-31+221C>A
ENST00000697353.1:n.83+4C>A (NCF2)
ENST00000367536.5:c.-31+221C>A (NCF2)	ENSP00000356506.1:n.-31+221C>A
ENST00000495321.1:n.234-7150G>T (SMG7)
NM_001127651.2:c.-31+221C>A (NCF2)	NP_001121123.1:n.-31+221C>A
XM_011509580.1:c.-31+4C>A (NCF2)	XP_011507882.1:n.-31+4C>A
NM_001127651.3:c.-31+221C>A (NCF2)	NP_001121123.1:n.-31+221C>A