Canonical Allele Identifier: CA992511411

Gene: NDUFS7

Linked Data

• dbSNP Id: rs531607907
• gnomAD v3: 19-1389907-C-CTTTTT
• gnomAD v4: 19-1389907-C-CTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1389917_1389921dup , CM000681.2:g.1389917_1389921dup	GRCh38
NC_000019.9:g.1389916_1389920dup , CM000681.1:g.1389916_1389920dup	GRCh37
NC_000019.8:g.1340916_1340920dup	NCBI36
NG_008283.1:g.11034_11038dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.229-954_229-950dup MANE Select	ENSP00000233627.9:n.229-954_229-950dup
ENST00000233627.13:c.229-954_229-950dup	ENSP00000233627.9:n.229-954_229-950dup
ENST00000313408.11:c.229-954_229-950dup	ENSP00000364262.5:n.229-954_229-950dup
ENST00000414651.3:c.319-954_319-950dup	ENSP00000406630.2:n.319-954_319-950dup
ENST00000436115.6:n.1230_1234dup
ENST00000534853.5:c.*23-954_*23-950dup	ENSP00000442822.1:n.*23-954_*23-950dup
ENST00000535382.1:n.481-954_481-950dup
ENST00000538523.5:n.285-954_285-950dup
ENST00000538662.5:n.256-954_256-950dup
ENST00000538929.5:n.319-954_319-950dup
ENST00000539480.5:c.229-954_229-950dup	ENSP00000443273.1:n.229-954_229-950dup
ENST00000540530.5:n.220-954_220-950dup
ENST00000543289.5:n.719-954_719-950dup
ENST00000545446.5:n.520-954_520-950dup
ENST00000546172.7:c.*225-954_*225-950dup	ENSP00000467094.1:n.*225-954_*225-950dup
ENST00000546283.5:c.229-954_229-950dup	ENSP00000440348.1:n.229-954_229-950dup
ENST00000618074.4:c.229-954_229-950dup	ENSP00000477895.1:n.229-954_229-950dup
ENST00000620479.4:c.229-954_229-950dup	ENSP00000480984.1:n.229-954_229-950dup
ENST00000622587.4:n.225-954_225-950dup
NM_024407.4:c.229-954_229-950dup	NP_077718.3:n.229-954_229-950dup
XM_005259556.3:c.229-954_229-950dup	XP_005259613.2:n.229-954_229-950dup
NM_001363602.1:c.229-954_229-950dup	NP_001350531.1:n.229-954_229-950dup
XM_024451499.1:c.250-954_250-950dup	XP_024307267.1:n.250-954_250-950dup
NM_024407.5:c.229-954_229-950dup MANE Select	NP_077718.3:n.229-954_229-950dup
NM_001363602.2:c.229-954_229-950dup	NP_001350531.1:n.229-954_229-950dup