Canonical Allele Identifier: CA992511407

Gene: NDUFS7

Linked Data

• dbSNP Id: rs958385724
• gnomAD v3: 19-1389892-T-TTTTTC
• gnomAD v4: 19-1389892-T-TTTTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1389907_1389911dup , CM000681.2:g.1389907_1389911dup	GRCh38
NC_000019.9:g.1389906_1389910dup , CM000681.1:g.1389906_1389910dup	GRCh37
NC_000019.8:g.1340906_1340910dup	NCBI36
NG_008283.1:g.11024_11028dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.229-964_229-960dup MANE Select	ENSP00000233627.9:n.229-964_229-960dup
ENST00000233627.13:c.229-964_229-960dup	ENSP00000233627.9:n.229-964_229-960dup
ENST00000313408.11:c.229-964_229-960dup	ENSP00000364262.5:n.229-964_229-960dup
ENST00000414651.3:c.319-964_319-960dup	ENSP00000406630.2:n.319-964_319-960dup
ENST00000436115.6:n.1220_1224dup
ENST00000534853.5:c.*23-964_*23-960dup	ENSP00000442822.1:n.*23-964_*23-960dup
ENST00000535382.1:n.481-964_481-960dup
ENST00000538523.5:n.285-964_285-960dup
ENST00000538662.5:n.256-964_256-960dup
ENST00000538929.5:n.319-964_319-960dup
ENST00000539480.5:c.229-964_229-960dup	ENSP00000443273.1:n.229-964_229-960dup
ENST00000540530.5:n.220-964_220-960dup
ENST00000543289.5:n.719-964_719-960dup
ENST00000545446.5:n.520-964_520-960dup
ENST00000546172.7:c.*225-964_*225-960dup	ENSP00000467094.1:n.*225-964_*225-960dup
ENST00000546283.5:c.229-964_229-960dup	ENSP00000440348.1:n.229-964_229-960dup
ENST00000618074.4:c.229-964_229-960dup	ENSP00000477895.1:n.229-964_229-960dup
ENST00000620479.4:c.229-964_229-960dup	ENSP00000480984.1:n.229-964_229-960dup
ENST00000622587.4:n.225-964_225-960dup
NM_024407.4:c.229-964_229-960dup	NP_077718.3:n.229-964_229-960dup
XM_005259556.3:c.229-964_229-960dup	XP_005259613.2:n.229-964_229-960dup
NM_001363602.1:c.229-964_229-960dup	NP_001350531.1:n.229-964_229-960dup
XM_024451499.1:c.250-964_250-960dup	XP_024307267.1:n.250-964_250-960dup
NM_024407.5:c.229-964_229-960dup MANE Select	NP_077718.3:n.229-964_229-960dup
NM_001363602.2:c.229-964_229-960dup	NP_001350531.1:n.229-964_229-960dup