Canonical Allele Identifier: CA1041606478

Gene: NDUFS1

Linked Data

• gnomAD v3: 2-206123305-C-A
• gnomAD v4: 2-206123305-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206123305C>A , CM000664.2:g.206123305C>A	GRCh38
NC_000002.11:g.206988029C>A , CM000664.1:g.206988029C>A	GRCh37
NC_000002.10:g.206696274C>A	NCBI36
NG_009248.1:g.41159G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.*880G>T MANE Select	ENSP00000233190.5:n.*880G>T
ENST00000233190.10:c.*880G>T	ENSP00000233190.5:n.*880G>T
ENST00000455934.6:c.*880G>T	ENSP00000392709.2:n.*880G>T
NM_001199981.1:c.*880G>T	NP_001186910.1:n.*880G>T
NM_001199982.1:c.*880G>T	NP_001186911.1:n.*880G>T
NM_001199983.1:c.*880G>T	NP_001186912.1:n.*880G>T
NM_001199984.1:c.*880G>T	NP_001186913.1:n.*880G>T
NM_005006.6:c.*880G>T	NP_004997.4:n.*880G>T
NM_001199981.2:c.*880G>T	NP_001186910.1:n.*880G>T
NM_001199982.2:c.*880G>T	NP_001186911.1:n.*880G>T
NM_001199983.2:c.*880G>T	NP_001186912.1:n.*880G>T
NM_005006.7:c.*880G>T MANE Select	NP_004997.4:n.*880G>T
NM_001199984.2:c.*880G>T	NP_001186913.1:n.*880G>T