Canonical Allele Identifier: CA118993

Gene: NDUFS7

Linked Data

• ClinVar Variation Id: 7681
• ClinVar RCV Id: RCV000008120 ; RCV000197296 ; RCV003155020
• dbSNP Id: rs104894705
• ExAC: 19:1391005 G / A
• gnomAD v2: 19-1391005-G-A
• gnomAD v3: 19-1391006-G-A
• gnomAD v4: 19-1391006-G-A
• MyVariant Identifiers: chr19:g.1391005G>A (hg19) ; chr19:g.1391006G>A (hg38)
• PubMed: PMID:10330338 ; PMID:15269216

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1391006G>A , CM000681.2:g.1391006G>A	GRCh38
NC_000019.9:g.1391005G>A , CM000681.1:g.1391005G>A	GRCh37
NC_000019.8:g.1342005G>A	NCBI36
NG_008283.1:g.12123G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000233627.14:c.364G>A MANE Select	ENSP00000233627.9:p.Val122Met
ENST00000233627.13:c.364G>A	ENSP00000233627.9:p.Val122Met
ENST00000313408.11:c.364G>A	ENSP00000364262.5:p.Val122Met
ENST00000414651.3:c.454G>A	ENSP00000406630.2:p.Val152Met
ENST00000436115.6:n.2319G>A
ENST00000534853.5:c.*158G>A	ENSP00000442822.1:n.*158G>A
ENST00000535382.1:n.616G>A
ENST00000538523.5:n.420G>A
ENST00000538662.5:n.391G>A
ENST00000538929.5:n.454G>A
ENST00000539480.5:c.364G>A	ENSP00000443273.1:p.Val122Met
ENST00000540530.5:n.355G>A
ENST00000543289.5:n.854G>A
ENST00000545446.5:n.655G>A
ENST00000546172.7:c.*360G>A	ENSP00000467094.1:n.*360G>A
ENST00000546283.5:c.364G>A	ENSP00000440348.1:p.Val122Met
ENST00000618074.4:c.364G>A	ENSP00000477895.1:p.Val122Met
ENST00000620479.4:c.364G>A	ENSP00000480984.1:p.Val122Met
ENST00000622587.4:n.360G>A
NM_024407.4:c.364G>A	NP_077718.3:p.Val122Met
XM_005259556.3:c.364G>A	XP_005259613.2:p.Val122Met
NM_001363602.1:c.364G>A	NP_001350531.1:p.Val122Met
XM_024451499.1:c.385G>A	XP_024307267.1:p.Val129Met
NM_024407.5:c.364G>A MANE Select	NP_077718.3:p.Val122Met
NM_001363602.2:c.364G>A	NP_001350531.1:p.Val122Met