Canonical Allele Identifier: CA33993298

Gene: NCF2 SMG7

Linked Data

• dbSNP Id: rs1004814905
• gnomAD v2: 1-183559858-A-C
• gnomAD v3: 1-183590723-A-C
• gnomAD v4: 1-183590723-A-C
• MyVariant Identifiers: chr1:g.183559858A>C (hg19) ; chr1:g.183590723A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183590723A>C , CM000663.2:g.183590723A>C	GRCh38
NC_000001.10:g.183559858A>C , CM000663.1:g.183559858A>C	GRCh37
NC_000001.9:g.181826481A>C	NCBI36
NG_007267.1:g.4859T>G , LRG_88:g.4859T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697330.1:c.-31+117T>G (NCF2)	ENSP00000513258.1:n.-31+117T>G
ENST00000367536.5:c.-31+117T>G (NCF2)	ENSP00000356506.1:n.-31+117T>G
ENST00000495321.1:n.234-7046A>C (SMG7)
NM_001127651.2:c.-31+117T>G (NCF2)	NP_001121123.1:n.-31+117T>G
NM_001127651.3:c.-31+117T>G (NCF2)	NP_001121123.1:n.-31+117T>G