Canonical Allele Identifier: CA350042909

Gene: NDUFS1

Linked Data

• dbSNP Id: rs1691351176
• gnomAD v3: 2-206127824-G-C
• gnomAD v4: 2-206127824-G-C
• MyVariant Identifiers: chr2:g.206992548G>C (hg19) ; chr2:g.206127824G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127824G>C , CM000664.2:g.206127824G>C	GRCh38
NC_000002.11:g.206992548G>C , CM000664.1:g.206992548G>C	GRCh37
NC_000002.10:g.206700793G>C	NCBI36
NG_009248.1:g.36640C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1857C>G MANE Select	ENSP00000233190.5:p.Asp619Glu
ENST00000233190.10:c.1857C>G	ENSP00000233190.5:p.Asp619Glu
ENST00000423725.5:c.1686C>G	ENSP00000397760.1:p.Asp562Glu
ENST00000432169.5:c.1524C>G	ENSP00000409689.1:p.Asp508Glu
ENST00000440274.5:c.1749C>G	ENSP00000409766.1:p.Asp583Glu
ENST00000449699.5:c.1857C>G	ENSP00000399912.1:p.Asp619Glu
ENST00000455934.6:c.1899C>G	ENSP00000392709.2:p.Asp633Glu
ENST00000457011.5:c.1509C>G	ENSP00000400976.1:p.Asp503Glu
ENST00000498520.1:n.329C>G
NM_001199981.1:c.1749C>G	NP_001186910.1:p.Asp583Glu
NM_001199982.1:c.1524C>G	NP_001186911.1:p.Asp508Glu
NM_001199983.1:c.1686C>G	NP_001186912.1:p.Asp562Glu
NM_001199984.1:c.1899C>G	NP_001186913.1:p.Asp633Glu
NM_005006.6:c.1857C>G	NP_004997.4:p.Asp619Glu
XM_017004188.2:c.1098C>G	XP_016859677.1:p.Asp366Glu
NM_001199981.2:c.1749C>G	NP_001186910.1:p.Asp583Glu
NM_001199982.2:c.1524C>G	NP_001186911.1:p.Asp508Glu
NM_001199983.2:c.1686C>G	NP_001186912.1:p.Asp562Glu
NM_005006.7:c.1857C>G MANE Select	NP_004997.4:p.Asp619Glu
NM_001199984.2:c.1899C>G	NP_001186913.1:p.Asp633Glu