Canonical Allele Identifier: CA63645578

Gene: NDUFS1

Linked Data

• dbSNP Id: rs886098580
• gnomAD v2: 2-206987983-G-T
• gnomAD v3: 2-206123259-G-T
• gnomAD v4: 2-206123259-G-T
• MyVariant Identifiers: chr2:g.206987983G>T (hg19) ; chr2:g.206123259G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206123259G>T , CM000664.2:g.206123259G>T	GRCh38
NC_000002.11:g.206987983G>T , CM000664.1:g.206987983G>T	GRCh37
NC_000002.10:g.206696228G>T	NCBI36
NG_009248.1:g.41205C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.*926C>A MANE Select	ENSP00000233190.5:n.*926C>A
ENST00000233190.10:c.*926C>A	ENSP00000233190.5:n.*926C>A
ENST00000455934.6:c.*926C>A	ENSP00000392709.2:n.*926C>A
NM_001199981.1:c.*926C>A	NP_001186910.1:n.*926C>A
NM_001199982.1:c.*926C>A	NP_001186911.1:n.*926C>A
NM_001199983.1:c.*926C>A	NP_001186912.1:n.*926C>A
NM_001199984.1:c.*926C>A	NP_001186913.1:n.*926C>A
NM_005006.6:c.*926C>A	NP_004997.4:n.*926C>A
NM_001199981.2:c.*926C>A	NP_001186910.1:n.*926C>A
NM_001199982.2:c.*926C>A	NP_001186911.1:n.*926C>A
NM_001199983.2:c.*926C>A	NP_001186912.1:n.*926C>A
NM_005006.7:c.*926C>A MANE Select	NP_004997.4:n.*926C>A
NM_001199984.2:c.*926C>A	NP_001186913.1:n.*926C>A