Canonical Allele Identifier: CA2739590550

Gene: NDUFS7

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1389470T>C , CM000681.2:g.1389470T>C	GRCh38
NC_000019.9:g.1389469T>C , CM000681.1:g.1389469T>C	GRCh37
NC_000019.8:g.1340469T>C	NCBI36
NG_008283.1:g.10587T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.228+532T>C MANE Select	ENSP00000233627.9:n.228+532T>C
ENST00000233627.13:c.228+532T>C	ENSP00000233627.9:n.228+532T>C
ENST00000313408.11:c.228+532T>C	ENSP00000364262.5:n.228+532T>C
ENST00000414651.3:c.318+532T>C	ENSP00000406630.2:n.318+532T>C
ENST00000436115.6:n.783T>C
ENST00000534853.5:c.*22+532T>C	ENSP00000442822.1:n.*22+532T>C
ENST00000535382.1:n.480+532T>C
ENST00000538523.5:n.284+532T>C
ENST00000538662.5:n.255+532T>C
ENST00000538929.5:n.318+532T>C
ENST00000539480.5:c.228+532T>C	ENSP00000443273.1:n.228+532T>C
ENST00000540530.5:n.219+532T>C
ENST00000543289.5:n.718+532T>C
ENST00000545446.5:n.519+532T>C
ENST00000546172.7:c.*224+532T>C	ENSP00000467094.1:n.*224+532T>C
ENST00000546283.5:c.228+532T>C	ENSP00000440348.1:n.228+532T>C
ENST00000618074.4:c.228+532T>C	ENSP00000477895.1:n.228+532T>C
ENST00000620479.4:c.228+532T>C	ENSP00000480984.1:n.228+532T>C
ENST00000622587.4:n.224+532T>C
NM_024407.4:c.228+532T>C	NP_077718.3:n.228+532T>C
XM_005259556.3:c.228+532T>C	XP_005259613.2:n.228+532T>C
NM_001363602.1:c.228+532T>C	NP_001350531.1:n.228+532T>C
XM_017026768.2:c.760T>C	XP_016882257.2:p.Trp254Arg
XM_024451499.1:c.249+532T>C	XP_024307267.1:n.249+532T>C
NM_024407.5:c.228+532T>C MANE Select	NP_077718.3:n.228+532T>C
NM_001363602.2:c.228+532T>C	NP_001350531.1:n.228+532T>C