Canonical Allele Identifier: CA33993295
Gene: NCF2 HGNC NCBI
SMG7 HGNC NCBI

Linked Data

dbSNP Id: rs376461528
gnomAD v4: 1-183590710-C-T
MyVariant Identifiers: chr1:g.183559845C>T (hg19) chr1:g.183590710C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183590710C>T , CM000663.2:g.183590710C>T GRCh38
NC_000001.10:g.183559845C>T , CM000663.1:g.183559845C>T GRCh37
NC_000001.9:g.181826468C>T NCBI36
NG_007267.1:g.4872G>A , LRG_88:g.4872G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697330.1:c.-31+130G>A (NCF2) ENSP00000513258.1:n.-31+130G>A
ENST00000367536.5:c.-31+130G>A (NCF2) ENSP00000356506.1:n.-31+130G>A
ENST00000495321.1:n.234-7059C>T (SMG7)
NM_001127651.2:c.-31+130G>A (NCF2) NP_001121123.1:n.-31+130G>A
NM_001127651.3:c.-31+130G>A (NCF2) NP_001121123.1:n.-31+130G>A
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