Canonical Allele Identifier: CA10624875
Gene: NDUFAF4 HGNC NCBI

Linked Data

ClinVar Variation Id: 358257
ClinVar RCV Id: RCV000383714
dbSNP Id: rs74905648
gnomAD v2: 6-97337927-T-C
gnomAD v3: 6-96890051-T-C
gnomAD v4: 6-96890051-T-C
MyVariant Identifiers: chr6:g.97337927T>C (hg19) chr6:g.96890051T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.96890051T>C , CM000668.2:g.96890051T>C GRCh38
NC_000006.11:g.97337927T>C , CM000668.1:g.97337927T>C GRCh37
NC_000006.10:g.97444648T>C NCBI36
NG_013379.1:g.12841A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000316149.8:c.*1053A>G MANE Select ENSP00000358272.4:n.*1053A>G
ENST00000316149.7:c.*1053A>G ENSP00000358272.4:n.*1053A>G
NM_014165.3:c.*1053A>G NP_054884.1:n.*1053A>G
NM_014165.4:c.*1053A>G MANE Select NP_054884.1:n.*1053A>G
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