Canonical Allele Identifier: CA2070717

Gene: NDUFS1

Linked Data

• ClinVar Variation Id: 378251
• ClinVar RCV Id: RCV000419653 ; RCV001138898 ; RCV001138899 ; RCV002061445 ; RCV003950361
• dbSNP Id: rs148544177
• ExAC: 2:207011753 A / G
• gnomAD v2: 2-207011753-A-G
• gnomAD v3: 2-206147029-A-G
• gnomAD v4: 2-206147029-A-G
• MyVariant Identifiers: chr2:g.207011753A>G (hg19) ; chr2:g.206147029A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206147029A>G , CM000664.2:g.206147029A>G	GRCh38
NC_000002.11:g.207011753A>G , CM000664.1:g.207011753A>G	GRCh37
NC_000002.10:g.206719998A>G	NCBI36
NG_009248.1:g.17435T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.611T>C MANE Select	ENSP00000233190.5:p.Met204Thr
ENST00000233190.10:c.611T>C	ENSP00000233190.5:p.Met204Thr
ENST00000423725.5:c.440T>C	ENSP00000397760.1:p.Met147Thr
ENST00000432169.5:c.278T>C	ENSP00000409689.1:p.Met93Thr
ENST00000440274.5:c.503T>C	ENSP00000409766.1:p.Met168Thr
ENST00000449699.5:c.611T>C	ENSP00000399912.1:p.Met204Thr
ENST00000455934.6:c.653T>C	ENSP00000392709.2:p.Met218Thr
ENST00000457011.5:c.263T>C	ENSP00000400976.1:p.Met88Thr
NM_001199981.1:c.503T>C	NP_001186910.1:p.Met168Thr
NM_001199982.1:c.278T>C	NP_001186911.1:p.Met93Thr
NM_001199983.1:c.440T>C	NP_001186912.1:p.Met147Thr
NM_001199984.1:c.653T>C	NP_001186913.1:p.Met218Thr
NM_005006.6:c.611T>C	NP_004997.4:p.Met204Thr
XM_017004188.2:c.-180T>C	XP_016859677.1:n.-180T>C
NM_001199981.2:c.503T>C	NP_001186910.1:p.Met168Thr
NM_001199982.2:c.278T>C	NP_001186911.1:p.Met93Thr
NM_001199983.2:c.440T>C	NP_001186912.1:p.Met147Thr
NM_005006.7:c.611T>C MANE Select	NP_004997.4:p.Met204Thr
NM_001199984.2:c.653T>C	NP_001186913.1:p.Met218Thr