Canonical Allele Identifier: CA9043261

Gene: NDUFS7

Linked Data

• dbSNP Id: rs752000194
• ExAC: 19:1389320 G / GCA
• gnomAD v2: 19-1389320-G-GCA
• gnomAD v3: 19-1389321-G-GCA
• gnomAD v4: 19-1389321-G-GCA
• MyVariant Identifiers: chr19:g.1389326delinsACT (hg19) ; chr19:g.1389320_1389321insCA (hg19) ; chr19:g.1389321_1389322insCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1389325_1389326dup , CM000681.2:g.1389325_1389326dup	GRCh38
NC_000019.9:g.1389324_1389325dup , CM000681.1:g.1389324_1389325dup	GRCh37
NC_000019.8:g.1340324_1340325dup	NCBI36
NG_008283.1:g.10442_10443dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.228+387_228+388dup MANE Select	ENSP00000233627.9:n.228+387_228+388dup
ENST00000233627.13:c.228+387_228+388dup	ENSP00000233627.9:n.228+387_228+388dup
ENST00000313408.11:c.228+387_228+388dup	ENSP00000364262.5:n.228+387_228+388dup
ENST00000414651.3:c.318+387_318+388dup	ENSP00000406630.2:n.318+387_318+388dup
ENST00000436115.6:n.638_639dup
ENST00000534853.5:c.*22+387_*22+388dup	ENSP00000442822.1:n.*22+387_*22+388dup
ENST00000535382.1:n.480+387_480+388dup
ENST00000538523.5:n.284+387_284+388dup
ENST00000538662.5:n.255+387_255+388dup
ENST00000538929.5:n.318+387_318+388dup
ENST00000539480.5:c.228+387_228+388dup	ENSP00000443273.1:n.228+387_228+388dup
ENST00000540530.5:n.219+387_219+388dup
ENST00000543289.5:n.718+387_718+388dup
ENST00000545446.5:n.519+387_519+388dup
ENST00000546172.7:c.*224+387_*224+388dup	ENSP00000467094.1:n.*224+387_*224+388dup
ENST00000546283.5:c.228+387_228+388dup	ENSP00000440348.1:n.228+387_228+388dup
ENST00000618074.4:c.228+387_228+388dup	ENSP00000477895.1:n.228+387_228+388dup
ENST00000620479.4:c.228+387_228+388dup	ENSP00000480984.1:n.228+387_228+388dup
ENST00000622587.4:n.224+387_224+388dup
NM_024407.4:c.228+387_228+388dup	NP_077718.3:n.228+387_228+388dup
XM_005259556.3:c.228+387_228+388dup	XP_005259613.2:n.228+387_228+388dup
NM_001363602.1:c.228+387_228+388dup	NP_001350531.1:n.228+387_228+388dup
XM_017026768.2:c.615_616dup	XP_016882257.2:p.Leu206HisfsTer28
XM_024451499.1:c.249+387_249+388dup	XP_024307267.1:n.249+387_249+388dup
NM_024407.5:c.228+387_228+388dup MANE Select	NP_077718.3:n.228+387_228+388dup
NM_001363602.2:c.228+387_228+388dup	NP_001350531.1:n.228+387_228+388dup