Canonical Allele Identifier: CA1041608702

Gene: NDUFS1

Linked Data

• dbSNP Id: rs1691361212
• gnomAD v3: 2-206128035-G-A
• gnomAD v4: 2-206128035-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206128035G>A , CM000664.2:g.206128035G>A	GRCh38
NC_000002.11:g.206992759G>A , CM000664.1:g.206992759G>A	GRCh37
NC_000002.10:g.206701004G>A	NCBI36
NG_009248.1:g.36429C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1709-63C>T MANE Select	ENSP00000233190.5:n.1709-63C>T
ENST00000233190.10:c.1709-63C>T	ENSP00000233190.5:n.1709-63C>T
ENST00000423725.5:c.1538-63C>T	ENSP00000397760.1:n.1538-63C>T
ENST00000432169.5:c.1376-63C>T	ENSP00000409689.1:n.1376-63C>T
ENST00000440274.5:c.1601-63C>T	ENSP00000409766.1:n.1601-63C>T
ENST00000449699.5:c.1709-63C>T	ENSP00000399912.1:n.1709-63C>T
ENST00000455934.6:c.1751-63C>T	ENSP00000392709.2:n.1751-63C>T
ENST00000457011.5:c.1361-63C>T	ENSP00000400976.1:n.1361-63C>T
ENST00000498520.1:n.181-63C>T
NM_001199981.1:c.1601-63C>T	NP_001186910.1:n.1601-63C>T
NM_001199982.1:c.1376-63C>T	NP_001186911.1:n.1376-63C>T
NM_001199983.1:c.1538-63C>T	NP_001186912.1:n.1538-63C>T
NM_001199984.1:c.1751-63C>T	NP_001186913.1:n.1751-63C>T
NM_005006.6:c.1709-63C>T	NP_004997.4:n.1709-63C>T
XM_017004188.2:c.950-63C>T	XP_016859677.1:n.950-63C>T
NM_001199981.2:c.1601-63C>T	NP_001186910.1:n.1601-63C>T
NM_001199982.2:c.1376-63C>T	NP_001186911.1:n.1376-63C>T
NM_001199983.2:c.1538-63C>T	NP_001186912.1:n.1538-63C>T
NM_005006.7:c.1709-63C>T MANE Select	NP_004997.4:n.1709-63C>T
NM_001199984.2:c.1751-63C>T	NP_001186913.1:n.1751-63C>T