Canonical Allele Identifier: CA2070662

Gene: NDUFS1

Linked Data

• dbSNP Id: rs775933087
• ExAC: 2:207009744 T / C
• gnomAD v2: 2-207009744-T-C
• gnomAD v3: 2-206145020-T-C
• gnomAD v4: 2-206145020-T-C
• MyVariant Identifiers: chr2:g.207009744T>C (hg19) ; chr2:g.206145020T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206145020T>C , CM000664.2:g.206145020T>C	GRCh38
NC_000002.11:g.207009744T>C , CM000664.1:g.207009744T>C	GRCh37
NC_000002.10:g.206717989T>C	NCBI36
NG_009248.1:g.19444A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000233190.11:c.744A>G MANE Select	ENSP00000233190.5:p.Thr248=
ENST00000233190.10:c.744A>G	ENSP00000233190.5:p.Thr248=
ENST00000423725.5:c.573A>G	ENSP00000397760.1:p.Thr191=
ENST00000432169.5:c.411A>G	ENSP00000409689.1:p.Thr137=
ENST00000440274.5:c.636A>G	ENSP00000409766.1:p.Thr212=
ENST00000449699.5:c.744A>G	ENSP00000399912.1:p.Thr248=
ENST00000455934.6:c.786A>G	ENSP00000392709.2:p.Thr262=
ENST00000457011.5:c.396A>G	ENSP00000400976.1:p.Thr132=
NM_001199981.1:c.636A>G	NP_001186910.1:p.Thr212=
NM_001199982.1:c.411A>G	NP_001186911.1:p.Thr137=
NM_001199983.1:c.573A>G	NP_001186912.1:p.Thr191=
NM_001199984.1:c.786A>G	NP_001186913.1:p.Thr262=
NM_005006.6:c.744A>G	NP_004997.4:p.Thr248=
XM_017004188.2:c.-16A>G	XP_016859677.1:n.-16A>G
NM_001199981.2:c.636A>G	NP_001186910.1:p.Thr212=
NM_001199982.2:c.411A>G	NP_001186911.1:p.Thr137=
NM_001199983.2:c.573A>G	NP_001186912.1:p.Thr191=
NM_005006.7:c.744A>G MANE Select	NP_004997.4:p.Thr248=
NM_001199984.2:c.786A>G	NP_001186913.1:p.Thr262=