Canonical Allele Identifier: CA527612295

Gene: NCF2 SMG7

Linked Data

• dbSNP Id: rs987916488
• gnomAD v2: 1-183559832-C-G
• gnomAD v3: 1-183590697-C-G
• gnomAD v4: 1-183590697-C-G
• MyVariant Identifiers: chr1:g.183559832C>G (hg19) ; chr1:g.183590697C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183590697C>G , CM000663.2:g.183590697C>G	GRCh38
NC_000001.10:g.183559832C>G , CM000663.1:g.183559832C>G	GRCh37
NC_000001.9:g.181826455C>G	NCBI36
NG_007267.1:g.4885G>C , LRG_88:g.4885G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697330.1:c.-31+143G>C (NCF2)	ENSP00000513258.1:n.-31+143G>C
ENST00000697353.1:n.9G>C (NCF2)
ENST00000367536.5:c.-31+143G>C (NCF2)	ENSP00000356506.1:n.-31+143G>C
ENST00000495321.1:n.234-7072C>G (SMG7)
NM_001127651.2:c.-31+143G>C (NCF2)	NP_001121123.1:n.-31+143G>C
XM_011509580.1:c.-105G>C (NCF2)	XP_011507882.1:n.-105G>C
NM_001127651.3:c.-31+143G>C (NCF2)	NP_001121123.1:n.-31+143G>C