Canonical Allele Identifier: CA9043384

Gene: NDUFS7

Linked Data

• dbSNP Id: rs754190573
• ExAC: 19:1391153 C / T
• gnomAD v2: 19-1391153-C-T
• gnomAD v4: 19-1391154-C-T
• MyVariant Identifiers: chr19:g.1391153C>T (hg19) ; chr19:g.1391154C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1391154C>T , CM000681.2:g.1391154C>T	GRCh38
NC_000019.9:g.1391153C>T , CM000681.1:g.1391153C>T	GRCh37
NC_000019.8:g.1342153C>T	NCBI36
NG_008283.1:g.12271C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000233627.14:c.444C>T MANE Select	ENSP00000233627.9:p.Val148=
ENST00000233627.13:c.444C>T	ENSP00000233627.9:p.Val148=
ENST00000313408.11:c.444C>T	ENSP00000364262.5:p.Val148=
ENST00000414651.3:c.534C>T	ENSP00000406630.2:p.Val178=
ENST00000436115.6:n.2399C>T
ENST00000534853.5:c.*238C>T	ENSP00000442822.1:n.*238C>T
ENST00000535382.1:n.696C>T
ENST00000538523.5:n.500C>T
ENST00000538662.5:n.539C>T
ENST00000538929.5:n.534C>T
ENST00000539480.5:c.444C>T	ENSP00000443273.1:p.Val148=
ENST00000540530.5:n.435C>T
ENST00000543289.5:n.1002C>T
ENST00000545446.5:n.735C>T
ENST00000546172.7:c.*440C>T	ENSP00000467094.1:n.*440C>T
ENST00000546283.5:c.444C>T	ENSP00000440348.1:p.Val148=
ENST00000618074.4:c.451C>T	ENSP00000477895.1:p.Leu151Phe
ENST00000620479.4:c.448C>T	ENSP00000480984.1:p.Leu150Phe
ENST00000622587.4:n.508C>T
NM_024407.4:c.444C>T	NP_077718.3:p.Val148=
XM_005259556.3:c.444C>T	XP_005259613.2:p.Val148=
NM_001363602.1:c.444C>T	NP_001350531.1:p.Val148=
XM_024451499.1:c.465C>T	XP_024307267.1:p.Val155=
NM_024407.5:c.444C>T MANE Select	NP_077718.3:p.Val148=
NM_001363602.2:c.444C>T	NP_001350531.1:p.Val148=