Canonical Allele Identifier: CA9043132

Gene: NDUFS7

Linked Data

• dbSNP Id: rs779228151
• ExAC: 19:1388865 G / A
• gnomAD v2: 19-1388865-G-A
• gnomAD v4: 19-1388866-G-A
• MyVariant Identifiers: chr19:g.1388865G>A (hg19) ; chr19:g.1388866G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1388866G>A , CM000681.2:g.1388866G>A	GRCh38
NC_000019.9:g.1388865G>A , CM000681.1:g.1388865G>A	GRCh37
NC_000019.8:g.1339865G>A	NCBI36
NG_008283.1:g.9983G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.156G>A MANE Select	ENSP00000233627.9:p.Val52=
ENST00000233627.13:c.156G>A	ENSP00000233627.9:p.Val52=
ENST00000313408.11:c.156G>A	ENSP00000364262.5:p.Val52=
ENST00000414651.3:c.246G>A	ENSP00000406630.2:p.Val82=
ENST00000436115.6:n.179G>A
ENST00000534853.5:c.151G>A	ENSP00000442822.1:p.Gly51Ser
ENST00000535382.1:n.408G>A
ENST00000538523.5:n.212G>A
ENST00000538662.5:n.183G>A
ENST00000538929.5:n.246G>A
ENST00000539480.5:c.156G>A	ENSP00000443273.1:p.Val52=
ENST00000540530.5:n.147G>A
ENST00000543289.5:n.646G>A
ENST00000545446.5:n.447G>A
ENST00000546172.7:c.*152G>A	ENSP00000467094.1:n.*152G>A
ENST00000546283.5:c.156G>A	ENSP00000440348.1:p.Val52=
ENST00000618074.4:c.156G>A	ENSP00000477895.1:p.Val52=
ENST00000620479.4:c.156G>A	ENSP00000480984.1:p.Val52=
ENST00000622587.4:n.152G>A
NM_024407.4:c.156G>A	NP_077718.3:p.Val52=
XM_005259556.3:c.156G>A	XP_005259613.2:p.Val52=
NM_001363602.1:c.156G>A	NP_001350531.1:p.Val52=
XM_017026768.2:c.156G>A	XP_016882257.2:p.Val52=
XM_024451499.1:c.177G>A	XP_024307267.1:p.Val59=
NM_024407.5:c.156G>A MANE Select	NP_077718.3:p.Val52=
NM_001363602.2:c.156G>A	NP_001350531.1:p.Val52=