Canonical Allele Identifier: CA2070353

Gene: NDUFS1

Linked Data

• ClinVar Variation Id: 2371995
• ClinVar RCV Id: RCV003001393
• dbSNP Id: rs373434545
• ExAC: 2:206992646 C / G
• gnomAD v2: 2-206992646-C-G
• gnomAD v3: 2-206127922-C-G
• gnomAD v4: 2-206127922-C-G
• MyVariant Identifiers: chr2:g.206992646C>G (hg19) ; chr2:g.206127922C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127922C>G , CM000664.2:g.206127922C>G	GRCh38
NC_000002.11:g.206992646C>G , CM000664.1:g.206992646C>G	GRCh37
NC_000002.10:g.206700891C>G	NCBI36
NG_009248.1:g.36542G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1759G>C MANE Select	ENSP00000233190.5:p.Ala587Pro
ENST00000233190.10:c.1759G>C	ENSP00000233190.5:p.Ala587Pro
ENST00000423725.5:c.1588G>C	ENSP00000397760.1:p.Ala530Pro
ENST00000432169.5:c.1426G>C	ENSP00000409689.1:p.Ala476Pro
ENST00000440274.5:c.1651G>C	ENSP00000409766.1:p.Ala551Pro
ENST00000449699.5:c.1759G>C	ENSP00000399912.1:p.Ala587Pro
ENST00000455934.6:c.1801G>C	ENSP00000392709.2:p.Ala601Pro
ENST00000457011.5:c.1411G>C	ENSP00000400976.1:p.Ala471Pro
ENST00000498520.1:n.231G>C
NM_001199981.1:c.1651G>C	NP_001186910.1:p.Ala551Pro
NM_001199982.1:c.1426G>C	NP_001186911.1:p.Ala476Pro
NM_001199983.1:c.1588G>C	NP_001186912.1:p.Ala530Pro
NM_001199984.1:c.1801G>C	NP_001186913.1:p.Ala601Pro
NM_005006.6:c.1759G>C	NP_004997.4:p.Ala587Pro
XM_017004188.2:c.1000G>C	XP_016859677.1:p.Ala334Pro
NM_001199981.2:c.1651G>C	NP_001186910.1:p.Ala551Pro
NM_001199982.2:c.1426G>C	NP_001186911.1:p.Ala476Pro
NM_001199983.2:c.1588G>C	NP_001186912.1:p.Ala530Pro
NM_005006.7:c.1759G>C MANE Select	NP_004997.4:p.Ala587Pro
NM_001199984.2:c.1801G>C	NP_001186913.1:p.Ala601Pro