Canonical Allele Identifier: CA33993299
Gene: NCF2 HGNC NCBI
SMG7 HGNC NCBI

Linked Data

dbSNP Id: rs901920370
gnomAD v4: 1-183590732-T-C
MyVariant Identifiers: chr1:g.183559867T>C (hg19) chr1:g.183590732T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183590732T>C , CM000663.2:g.183590732T>C GRCh38
NC_000001.10:g.183559867T>C , CM000663.1:g.183559867T>C GRCh37
NC_000001.9:g.181826490T>C NCBI36
NG_007267.1:g.4850A>G , LRG_88:g.4850A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697330.1:c.-31+108A>G (NCF2) ENSP00000513258.1:n.-31+108A>G
ENST00000367536.5:c.-31+108A>G (NCF2) ENSP00000356506.1:n.-31+108A>G
ENST00000495321.1:n.234-7037T>C (SMG7)
NM_001127651.2:c.-31+108A>G (NCF2) NP_001121123.1:n.-31+108A>G
NM_001127651.3:c.-31+108A>G (NCF2) NP_001121123.1:n.-31+108A>G
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