Canonical Allele Identifier: CA402985192

Gene: NDUFS7

Linked Data

• dbSNP Id: rs2144620066
• gnomAD v4: 19-1391018-C-T
• MyVariant Identifiers: chr19:g.1391017C>T (hg19) ; chr19:g.1391018C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1391018C>T , CM000681.2:g.1391018C>T	GRCh38
NC_000019.9:g.1391017C>T , CM000681.1:g.1391017C>T	GRCh37
NC_000019.8:g.1342017C>T	NCBI36
NG_008283.1:g.12135C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.376C>T MANE Select	ENSP00000233627.9:p.Leu126Phe
ENST00000233627.13:c.376C>T	ENSP00000233627.9:p.Leu126Phe
ENST00000313408.11:c.376C>T	ENSP00000364262.5:p.Leu126Phe
ENST00000414651.3:c.466C>T	ENSP00000406630.2:p.Leu156Phe
ENST00000436115.6:n.2331C>T
ENST00000534853.5:c.*170C>T	ENSP00000442822.1:n.*170C>T
ENST00000535382.1:n.628C>T
ENST00000538523.5:n.432C>T
ENST00000538662.5:n.403C>T
ENST00000538929.5:n.466C>T
ENST00000539480.5:c.376C>T	ENSP00000443273.1:p.Leu126Phe
ENST00000540530.5:n.367C>T
ENST00000543289.5:n.866C>T
ENST00000545446.5:n.667C>T
ENST00000546172.7:c.*372C>T	ENSP00000467094.1:n.*372C>T
ENST00000546283.5:c.376C>T	ENSP00000440348.1:p.Leu126Phe
ENST00000618074.4:c.376C>T	ENSP00000477895.1:p.Leu126Phe
ENST00000620479.4:c.376C>T	ENSP00000480984.1:p.Leu126Phe
ENST00000622587.4:n.372C>T
NM_024407.4:c.376C>T	NP_077718.3:p.Leu126Phe
XM_005259556.3:c.376C>T	XP_005259613.2:p.Leu126Phe
NM_001363602.1:c.376C>T	NP_001350531.1:p.Leu126Phe
XM_024451499.1:c.397C>T	XP_024307267.1:p.Leu133Phe
NM_024407.5:c.376C>T MANE Select	NP_077718.3:p.Leu126Phe
NM_001363602.2:c.376C>T	NP_001350531.1:p.Leu126Phe