Canonical Allele Identifier: CA10612576

Gene: NDUFS1

Linked Data

• ClinVar Variation Id: 333769
• ClinVar RCV Id: RCV000282324 ; RCV000339709
• dbSNP Id: rs146538309
• gnomAD v2: 2-206988348-A-G
• gnomAD v3: 2-206123624-A-G
• gnomAD v4: 2-206123624-A-G
• MyVariant Identifiers: chr2:g.206988348A>G (hg19) ; chr2:g.206123624A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206123624A>G , CM000664.2:g.206123624A>G	GRCh38
NC_000002.11:g.206988348A>G , CM000664.1:g.206988348A>G	GRCh37
NC_000002.10:g.206696593A>G	NCBI36
NG_009248.1:g.40840T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.*561T>C MANE Select	ENSP00000233190.5:n.*561T>C
ENST00000233190.10:c.*561T>C	ENSP00000233190.5:n.*561T>C
ENST00000455934.6:c.*561T>C	ENSP00000392709.2:n.*561T>C
NM_001199981.1:c.*561T>C	NP_001186910.1:n.*561T>C
NM_001199982.1:c.*561T>C	NP_001186911.1:n.*561T>C
NM_001199983.1:c.*561T>C	NP_001186912.1:n.*561T>C
NM_001199984.1:c.*561T>C	NP_001186913.1:n.*561T>C
NM_005006.6:c.*561T>C	NP_004997.4:n.*561T>C
NM_001199981.2:c.*561T>C	NP_001186910.1:n.*561T>C
NM_001199982.2:c.*561T>C	NP_001186911.1:n.*561T>C
NM_001199983.2:c.*561T>C	NP_001186912.1:n.*561T>C
NM_005006.7:c.*561T>C MANE Select	NP_004997.4:n.*561T>C
NM_001199984.2:c.*561T>C	NP_001186913.1:n.*561T>C