Canonical Allele Identifier: CA402985951

Gene: NDUFS7

Linked Data

• gnomAD v4: 19-1391144-G-C
• MyVariant Identifiers: chr19:g.1391143G>C (hg19) ; chr19:g.1391144G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1391144G>C , CM000681.2:g.1391144G>C	GRCh38
NC_000019.9:g.1391143G>C , CM000681.1:g.1391143G>C	GRCh37
NC_000019.8:g.1342143G>C	NCBI36
NG_008283.1:g.12261G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000233627.14:c.434G>C MANE Select	ENSP00000233627.9:p.Arg145Pro
ENST00000233627.13:c.434G>C	ENSP00000233627.9:p.Arg145Pro
ENST00000313408.11:c.434G>C	ENSP00000364262.5:p.Arg145Pro
ENST00000414651.3:c.524G>C	ENSP00000406630.2:p.Arg175Pro
ENST00000436115.6:n.2389G>C
ENST00000534853.5:c.*228G>C	ENSP00000442822.1:n.*228G>C
ENST00000535382.1:n.686G>C
ENST00000538523.5:n.490G>C
ENST00000538662.5:n.529G>C
ENST00000538929.5:n.524G>C
ENST00000539480.5:c.434G>C	ENSP00000443273.1:p.Arg145Pro
ENST00000540530.5:n.425G>C
ENST00000543289.5:n.992G>C
ENST00000545446.5:n.725G>C
ENST00000546172.7:c.*430G>C	ENSP00000467094.1:n.*430G>C
ENST00000546283.5:c.434G>C	ENSP00000440348.1:p.Arg145Pro
ENST00000618074.4:c.441G>C	ENSP00000477895.1:p.Ala147=
ENST00000620479.4:c.438G>C	ENSP00000480984.1:p.Ala146=
ENST00000622587.4:n.498G>C
NM_024407.4:c.434G>C	NP_077718.3:p.Arg145Pro
XM_005259556.3:c.434G>C	XP_005259613.2:p.Arg145Pro
NM_001363602.1:c.434G>C	NP_001350531.1:p.Arg145Pro
XM_024451499.1:c.455G>C	XP_024307267.1:p.Arg152Pro
NM_024407.5:c.434G>C MANE Select	NP_077718.3:p.Arg145Pro
NM_001363602.2:c.434G>C	NP_001350531.1:p.Arg145Pro