Canonical Allele Identifier: CA350057251

Gene: NDUFS1

Linked Data

• gnomAD v4: 2-206144942-C-G
• MyVariant Identifiers: chr2:g.207009666C>G (hg19) ; chr2:g.206144942C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144942C>G , CM000664.2:g.206144942C>G	GRCh38
NC_000002.11:g.207009666C>G , CM000664.1:g.207009666C>G	GRCh37
NC_000002.10:g.206717911C>G	NCBI36
NG_009248.1:g.19522G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.822G>C MANE Select	ENSP00000233190.5:p.Leu274Phe
ENST00000233190.10:c.822G>C	ENSP00000233190.5:p.Leu274Phe
ENST00000423725.5:c.651G>C	ENSP00000397760.1:p.Leu217Phe
ENST00000432169.5:c.489G>C	ENSP00000409689.1:p.Leu163Phe
ENST00000440274.5:c.714G>C	ENSP00000409766.1:p.Leu238Phe
ENST00000449699.5:c.822G>C	ENSP00000399912.1:p.Leu274Phe
ENST00000455934.6:c.864G>C	ENSP00000392709.2:p.Leu288Phe
ENST00000457011.5:c.474G>C	ENSP00000400976.1:p.Leu158Phe
NM_001199981.1:c.714G>C	NP_001186910.1:p.Leu238Phe
NM_001199982.1:c.489G>C	NP_001186911.1:p.Leu163Phe
NM_001199983.1:c.651G>C	NP_001186912.1:p.Leu217Phe
NM_001199984.1:c.864G>C	NP_001186913.1:p.Leu288Phe
NM_005006.6:c.822G>C	NP_004997.4:p.Leu274Phe
XM_017004188.2:c.63G>C	XP_016859677.1:p.Leu21Phe
NM_001199981.2:c.714G>C	NP_001186910.1:p.Leu238Phe
NM_001199982.2:c.489G>C	NP_001186911.1:p.Leu163Phe
NM_001199983.2:c.651G>C	NP_001186912.1:p.Leu217Phe
NM_005006.7:c.822G>C MANE Select	NP_004997.4:p.Leu274Phe
NM_001199984.2:c.864G>C	NP_001186913.1:p.Leu288Phe