Canonical Allele Identifier: CA539388344
Gene: NDUFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1346567760
gnomAD v2: 2-206987080-C-T
gnomAD v3: 2-206122356-C-T
gnomAD v4: 2-206122356-C-T
MyVariant Identifiers: chr2:g.206987080C>T (hg19) chr2:g.206122356C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206122356C>T , CM000664.2:g.206122356C>T GRCh38
NC_000002.11:g.206987080C>T , CM000664.1:g.206987080C>T GRCh37
NC_000002.10:g.206695325C>T NCBI36
NG_009248.1:g.42108G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.*1829G>A MANE Select ENSP00000233190.5:n.*1829G>A
ENST00000233190.10:c.*1829G>A ENSP00000233190.5:n.*1829G>A
NM_001199981.2:c.*1829G>A NP_001186910.1:n.*1829G>A
NM_001199982.2:c.*1829G>A NP_001186911.1:n.*1829G>A
NM_001199983.2:c.*1829G>A NP_001186912.1:n.*1829G>A
NM_005006.7:c.*1829G>A MANE Select NP_004997.4:n.*1829G>A
NM_001199984.2:c.*1829G>A NP_001186913.1:n.*1829G>A
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