Canonical Allele Identifier: CA15133499
Gene: NCF2 HGNC NCBI
SMG7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1229260
ClinVar RCV Id: RCV001609500
dbSNP Id: rs12091406
gnomAD v2: 1-183559841-G-A
gnomAD v3: 1-183590706-G-A
gnomAD v4: 1-183590706-G-A
MyVariant Identifiers: chr1:g.183559841G>A (hg19) chr1:g.183590706G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183590706G>A , CM000663.2:g.183590706G>A GRCh38
NC_000001.10:g.183559841G>A , CM000663.1:g.183559841G>A GRCh37
NC_000001.9:g.181826464G>A NCBI36
NG_007267.1:g.4876C>T , LRG_88:g.4876C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697330.1:c.-31+134C>T (NCF2) ENSP00000513258.1:n.-31+134C>T
ENST00000367536.5:c.-31+134C>T (NCF2) ENSP00000356506.1:n.-31+134C>T
ENST00000495321.1:n.234-7063G>A (SMG7)
NM_001127651.2:c.-31+134C>T (NCF2) NP_001121123.1:n.-31+134C>T
NM_001127651.3:c.-31+134C>T (NCF2) NP_001121123.1:n.-31+134C>T
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