Canonical Allele Identifier: CA504895264

Gene: NDUFS7

Linked Data

• ClinVar Variation Id: 2801714
• ClinVar RCV Id: RCV003676284
• dbSNP Id: rs2082554082
• gnomAD v4: 19-1391121-C-T
• MyVariant Identifiers: chr19:g.1391120C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1391121C>T , CM000681.2:g.1391121C>T	GRCh38
NC_000019.9:g.1391120C>T , CM000681.1:g.1391120C>T	GRCh37
NC_000019.8:g.1342120C>T	NCBI36
NG_008283.1:g.12238C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.411C>T MANE Select	ENSP00000233627.9:p.Val137=
ENST00000233627.13:c.411C>T	ENSP00000233627.9:p.Val137=
ENST00000313408.11:c.411C>T	ENSP00000364262.5:p.Val137=
ENST00000414651.3:c.501C>T	ENSP00000406630.2:p.Val167=
ENST00000436115.6:n.2366C>T
ENST00000534853.5:c.*205C>T	ENSP00000442822.1:n.*205C>T
ENST00000535382.1:n.663C>T
ENST00000538523.5:n.467C>T
ENST00000538662.5:n.506C>T
ENST00000538929.5:n.501C>T
ENST00000539480.5:c.411C>T	ENSP00000443273.1:p.Val137=
ENST00000540530.5:n.402C>T
ENST00000543289.5:n.969C>T
ENST00000545446.5:n.702C>T
ENST00000546172.7:c.*407C>T	ENSP00000467094.1:n.*407C>T
ENST00000546283.5:c.411C>T	ENSP00000440348.1:p.Val137=
ENST00000618074.4:c.428-10C>T	ENSP00000477895.1:n.428-10C>T
ENST00000620479.4:c.415C>T	ENSP00000480984.1:p.Leu139=
ENST00000622587.4:n.475C>T
NM_024407.4:c.411C>T	NP_077718.3:p.Val137=
XM_005259556.3:c.411C>T	XP_005259613.2:p.Val137=
NM_001363602.1:c.411C>T	NP_001350531.1:p.Val137=
XM_024451499.1:c.432C>T	XP_024307267.1:p.Val144=
NM_024407.5:c.411C>T MANE Select	NP_077718.3:p.Val137=
NM_001363602.2:c.411C>T	NP_001350531.1:p.Val137=