Canonical Allele Identifier: CA10624859
Gene: NDUFAF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 354028
ClinVar RCV Id: RCV000262719 RCV000355199 RCV000373301 RCV001653699
dbSNP Id: rs4647036
gnomAD v2: 5-60240992-C-T
gnomAD v3: 5-60945165-C-T
gnomAD v4: 5-60945165-C-T
MyVariant Identifiers: chr5:g.60240992C>T (hg19) chr5:g.60945165C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.60945165C>T , CM000667.2:g.60945165C>T GRCh38
NC_000005.9:g.60240992C>T , CM000667.1:g.60240992C>T GRCh37
NC_000005.8:g.60276749C>T NCBI36
NG_008978.1:g.5037C>T
NG_009289.1:g.4914G>A , LRG_466:g.4914G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296597.9:c.-91C>T ENSP00000296597.5:n.-91C>T
NM_174889.4:c.-91C>T NP_777549.1:n.-91C>T
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