Canonical Allele Identifier: CA33993287
Gene: NCF2 HGNC NCBI
SMG7 HGNC NCBI

Linked Data

dbSNP Id: rs987916488
gnomAD v2: 1-183559832-C-T
gnomAD v3: 1-183590697-C-T
gnomAD v4: 1-183590697-C-T
MyVariant Identifiers: chr1:g.183559832C>T (hg19) chr1:g.183590697C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

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