Canonical Allele Identifier: CA292489

Gene: NDUFS1

Linked Data

• ClinVar Variation Id: 138480
• ClinVar RCV Id: RCV000127145 ; RCV000298259 ; RCV000399898 ; RCV000676270 ; RCV001000338
• dbSNP Id: rs2230892
• ExAC: 2:207003230 C / T
• gnomAD v2: 2-207003230-C-T
• gnomAD v3: 2-206138506-C-T
• gnomAD v4: 2-206138506-C-T
• MyVariant Identifiers: chr2:g.207003230C>T (hg19) ; chr2:g.206138506C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206138506C>T , CM000664.2:g.206138506C>T	GRCh38
NC_000002.11:g.207003230C>T , CM000664.1:g.207003230C>T	GRCh37
NC_000002.10:g.206711475C>T	NCBI36
NG_009248.1:g.25958G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1371G>A MANE Select	ENSP00000233190.5:p.Ser457=
ENST00000233190.10:c.1371G>A	ENSP00000233190.5:p.Ser457=
ENST00000423725.5:c.1200G>A	ENSP00000397760.1:p.Ser400=
ENST00000432169.5:c.1038G>A	ENSP00000409689.1:p.Ser346=
ENST00000440274.5:c.1263G>A	ENSP00000409766.1:p.Ser421=
ENST00000449699.5:c.1371G>A	ENSP00000399912.1:p.Ser457=
ENST00000455934.6:c.1413G>A	ENSP00000392709.2:p.Ser471=
ENST00000457011.5:c.1023G>A	ENSP00000400976.1:p.Ser341=
NM_001199981.1:c.1263G>A	NP_001186910.1:p.Ser421=
NM_001199982.1:c.1038G>A	NP_001186911.1:p.Ser346=
NM_001199983.1:c.1200G>A	NP_001186912.1:p.Ser400=
NM_001199984.1:c.1413G>A	NP_001186913.1:p.Ser471=
NM_005006.6:c.1371G>A	NP_004997.4:p.Ser457=
XM_017004188.2:c.612G>A	XP_016859677.1:p.Ser204=
NM_001199981.2:c.1263G>A	NP_001186910.1:p.Ser421=
NM_001199982.2:c.1038G>A	NP_001186911.1:p.Ser346=
NM_001199983.2:c.1200G>A	NP_001186912.1:p.Ser400=
NM_005006.7:c.1371G>A MANE Select	NP_004997.4:p.Ser457=
NM_001199984.2:c.1413G>A	NP_001186913.1:p.Ser471=