Canonical Allele Identifier: CA2070351

Gene: NDUFS1

Linked Data

• dbSNP Id: rs748911049
• ExAC: 2:206992627 G / C
• gnomAD v2: 2-206992627-G-C
• gnomAD v4: 2-206127903-G-C
• MyVariant Identifiers: chr2:g.206992627G>C (hg19) ; chr2:g.206127903G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127903G>C , CM000664.2:g.206127903G>C	GRCh38
NC_000002.11:g.206992627G>C , CM000664.1:g.206992627G>C	GRCh37
NC_000002.10:g.206700872G>C	NCBI36
NG_009248.1:g.36561C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1778C>G MANE Select	ENSP00000233190.5:p.Ser593Cys
ENST00000233190.10:c.1778C>G	ENSP00000233190.5:p.Ser593Cys
ENST00000423725.5:c.1607C>G	ENSP00000397760.1:p.Ser536Cys
ENST00000432169.5:c.1445C>G	ENSP00000409689.1:p.Ser482Cys
ENST00000440274.5:c.1670C>G	ENSP00000409766.1:p.Ser557Cys
ENST00000449699.5:c.1778C>G	ENSP00000399912.1:p.Ser593Cys
ENST00000455934.6:c.1820C>G	ENSP00000392709.2:p.Ser607Cys
ENST00000457011.5:c.1430C>G	ENSP00000400976.1:p.Ser477Cys
ENST00000498520.1:n.250C>G
NM_001199981.1:c.1670C>G	NP_001186910.1:p.Ser557Cys
NM_001199982.1:c.1445C>G	NP_001186911.1:p.Ser482Cys
NM_001199983.1:c.1607C>G	NP_001186912.1:p.Ser536Cys
NM_001199984.1:c.1820C>G	NP_001186913.1:p.Ser607Cys
NM_005006.6:c.1778C>G	NP_004997.4:p.Ser593Cys
XM_017004188.2:c.1019C>G	XP_016859677.1:p.Ser340Cys
NM_001199981.2:c.1670C>G	NP_001186910.1:p.Ser557Cys
NM_001199982.2:c.1445C>G	NP_001186911.1:p.Ser482Cys
NM_001199983.2:c.1607C>G	NP_001186912.1:p.Ser536Cys
NM_005006.7:c.1778C>G MANE Select	NP_004997.4:p.Ser593Cys
NM_001199984.2:c.1820C>G	NP_001186913.1:p.Ser607Cys