Canonical Allele Identifier: CA63644547
Gene: NDUFS1 HGNC NCBI

Linked Data

dbSNP Id: rs970040740
gnomAD v3: 2-206121960-G-C
gnomAD v4: 2-206121960-G-C
MyVariant Identifiers: chr2:g.206986684G>C (hg19) chr2:g.206121960G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206121960G>C , CM000664.2:g.206121960G>C GRCh38
NC_000002.11:g.206986684G>C , CM000664.1:g.206986684G>C GRCh37
NC_000002.10:g.206694929G>C NCBI36
NG_009248.1:g.42504C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.*2225C>G MANE Select ENSP00000233190.5:n.*2225C>G
ENST00000233190.10:c.*2225C>G ENSP00000233190.5:n.*2225C>G
NM_001199981.2:c.*2225C>G NP_001186910.1:n.*2225C>G
NM_001199982.2:c.*2225C>G NP_001186911.1:n.*2225C>G
NM_001199983.2:c.*2225C>G NP_001186912.1:n.*2225C>G
NM_005006.7:c.*2225C>G MANE Select NP_004997.4:n.*2225C>G
NM_001199984.2:c.*2225C>G NP_001186913.1:n.*2225C>G
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