Canonical Allele Identifier: CA631300714

Gene: NDUFS7

Linked Data

• dbSNP Id: rs767448532
• gnomAD v2: 19-1388983-C-G
• gnomAD v4: 19-1388984-C-G
• MyVariant Identifiers: chr19:g.1388983C>G (hg19) ; chr19:g.1388984C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1388984C>G , CM000681.2:g.1388984C>G	GRCh38
NC_000019.9:g.1388983C>G , CM000681.1:g.1388983C>G	GRCh37
NC_000019.8:g.1339983C>G	NCBI36
NG_008283.1:g.10101C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.228+46C>G MANE Select	ENSP00000233627.9:n.228+46C>G
ENST00000233627.13:c.228+46C>G	ENSP00000233627.9:n.228+46C>G
ENST00000313408.11:c.228+46C>G	ENSP00000364262.5:n.228+46C>G
ENST00000414651.3:c.318+46C>G	ENSP00000406630.2:n.318+46C>G
ENST00000436115.6:n.297C>G
ENST00000534853.5:c.*22+46C>G	ENSP00000442822.1:n.*22+46C>G
ENST00000535382.1:n.480+46C>G
ENST00000538523.5:n.284+46C>G
ENST00000538662.5:n.255+46C>G
ENST00000538929.5:n.318+46C>G
ENST00000539480.5:c.228+46C>G	ENSP00000443273.1:n.228+46C>G
ENST00000540530.5:n.219+46C>G
ENST00000543289.5:n.718+46C>G
ENST00000545446.5:n.519+46C>G
ENST00000546172.7:c.*224+46C>G	ENSP00000467094.1:n.*224+46C>G
ENST00000546283.5:c.228+46C>G	ENSP00000440348.1:n.228+46C>G
ENST00000618074.4:c.228+46C>G	ENSP00000477895.1:n.228+46C>G
ENST00000620479.4:c.228+46C>G	ENSP00000480984.1:n.228+46C>G
ENST00000622587.4:n.224+46C>G
NM_024407.4:c.228+46C>G	NP_077718.3:n.228+46C>G
XM_005259556.3:c.228+46C>G	XP_005259613.2:n.228+46C>G
NM_001363602.1:c.228+46C>G	NP_001350531.1:n.228+46C>G
XM_017026768.2:c.274C>G	XP_016882257.2:p.Leu92Val
XM_024451499.1:c.249+46C>G	XP_024307267.1:n.249+46C>G
NM_024407.5:c.228+46C>G MANE Select	NP_077718.3:n.228+46C>G
NM_001363602.2:c.228+46C>G	NP_001350531.1:n.228+46C>G