Canonical Allele Identifier: CA2070333

Gene: NDUFS1

Linked Data

• dbSNP Id: rs768078809
• ExAC: 2:206992474 A / C
• gnomAD v2: 2-206992474-A-C
• gnomAD v3: 2-206127750-A-C
• gnomAD v4: 2-206127750-A-C
• MyVariant Identifiers: chr2:g.206992474A>C (hg19) ; chr2:g.206127750A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127750A>C , CM000664.2:g.206127750A>C	GRCh38
NC_000002.11:g.206992474A>C , CM000664.1:g.206992474A>C	GRCh37
NC_000002.10:g.206700719A>C	NCBI36
NG_009248.1:g.36714T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1884+47T>G MANE Select	ENSP00000233190.5:n.1884+47T>G
ENST00000233190.10:c.1884+47T>G	ENSP00000233190.5:n.1884+47T>G
ENST00000423725.5:c.1713+47T>G	ENSP00000397760.1:n.1713+47T>G
ENST00000432169.5:c.1551+47T>G	ENSP00000409689.1:n.1551+47T>G
ENST00000440274.5:c.1776+47T>G	ENSP00000409766.1:n.1776+47T>G
ENST00000449699.5:c.1884+47T>G	ENSP00000399912.1:n.1884+47T>G
ENST00000455934.6:c.1926+47T>G	ENSP00000392709.2:n.1926+47T>G
ENST00000457011.5:c.1536+47T>G	ENSP00000400976.1:n.1536+47T>G
ENST00000498520.1:n.403T>G
NM_001199981.1:c.1776+47T>G	NP_001186910.1:n.1776+47T>G
NM_001199982.1:c.1551+47T>G	NP_001186911.1:n.1551+47T>G
NM_001199983.1:c.1713+47T>G	NP_001186912.1:n.1713+47T>G
NM_001199984.1:c.1926+47T>G	NP_001186913.1:n.1926+47T>G
NM_005006.6:c.1884+47T>G	NP_004997.4:n.1884+47T>G
XM_017004188.2:c.1125+47T>G	XP_016859677.1:n.1125+47T>G
NM_001199981.2:c.1776+47T>G	NP_001186910.1:n.1776+47T>G
NM_001199982.2:c.1551+47T>G	NP_001186911.1:n.1551+47T>G
NM_001199983.2:c.1713+47T>G	NP_001186912.1:n.1713+47T>G
NM_005006.7:c.1884+47T>G MANE Select	NP_004997.4:n.1884+47T>G
NM_001199984.2:c.1926+47T>G	NP_001186913.1:n.1926+47T>G