Canonical Allele Identifier: CA350057182

Gene: NDUFS1

Linked Data

• ClinVar Variation Id: 1934561
• ClinVar RCV Id: RCV002632037
• dbSNP Id: rs1452711330
• gnomAD v4: 2-206144933-C-T
• MyVariant Identifiers: chr2:g.207009657C>T (hg19) ; chr2:g.206144933C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144933C>T , CM000664.2:g.206144933C>T	GRCh38
NC_000002.11:g.207009657C>T , CM000664.1:g.207009657C>T	GRCh37
NC_000002.10:g.206717902C>T	NCBI36
NG_009248.1:g.19531G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.831G>A MANE Select	ENSP00000233190.5:p.Met277Ile
ENST00000233190.10:c.831G>A	ENSP00000233190.5:p.Met277Ile
ENST00000423725.5:c.660G>A	ENSP00000397760.1:p.Met220Ile
ENST00000432169.5:c.498G>A	ENSP00000409689.1:p.Met166Ile
ENST00000440274.5:c.723G>A	ENSP00000409766.1:p.Met241Ile
ENST00000449699.5:c.831G>A	ENSP00000399912.1:p.Met277Ile
ENST00000455934.6:c.873G>A	ENSP00000392709.2:p.Met291Ile
ENST00000457011.5:c.483G>A	ENSP00000400976.1:p.Met161Ile
NM_001199981.1:c.723G>A	NP_001186910.1:p.Met241Ile
NM_001199982.1:c.498G>A	NP_001186911.1:p.Met166Ile
NM_001199983.1:c.660G>A	NP_001186912.1:p.Met220Ile
NM_001199984.1:c.873G>A	NP_001186913.1:p.Met291Ile
NM_005006.6:c.831G>A	NP_004997.4:p.Met277Ile
XM_017004188.2:c.72G>A	XP_016859677.1:p.Met24Ile
NM_001199981.2:c.723G>A	NP_001186910.1:p.Met241Ile
NM_001199982.2:c.498G>A	NP_001186911.1:p.Met166Ile
NM_001199983.2:c.660G>A	NP_001186912.1:p.Met220Ile
NM_005006.7:c.831G>A MANE Select	NP_004997.4:p.Met277Ile
NM_001199984.2:c.873G>A	NP_001186913.1:p.Met291Ile