Canonical Allele Identifier: CA430940212

Gene: NDUFS1

Linked Data

• dbSNP Id: rs1691117950
• gnomAD v3: 2-206122259-G-A
• gnomAD v4: 2-206122259-G-A
• MyVariant Identifiers: chr2:g.206986983G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206122259G>A , CM000664.2:g.206122259G>A	GRCh38
NC_000002.11:g.206986983G>A , CM000664.1:g.206986983G>A	GRCh37
NC_000002.10:g.206695228G>A	NCBI36
NG_009248.1:g.42205C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.*1926C>T MANE Select	ENSP00000233190.5:n.*1926C>T
ENST00000233190.10:c.*1926C>T	ENSP00000233190.5:n.*1926C>T
NM_001199981.2:c.*1926C>T	NP_001186910.1:n.*1926C>T
NM_001199982.2:c.*1926C>T	NP_001186911.1:n.*1926C>T
NM_001199983.2:c.*1926C>T	NP_001186912.1:n.*1926C>T
NM_005006.7:c.*1926C>T MANE Select	NP_004997.4:n.*1926C>T
NM_001199984.2:c.*1926C>T	NP_001186913.1:n.*1926C>T