Canonical Allele Identifier: CA9043281

Gene: NDUFS7

Linked Data

• dbSNP Id: rs11666067
• ExAC: 19:1389517 C / A
• gnomAD v2: 19-1389517-C-A
• gnomAD v3: 19-1389518-C-A
• gnomAD v4: 19-1389518-C-A
• MyVariant Identifiers: chr19:g.1389517C>A (hg19) ; chr19:g.1389518C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1389518C>A , CM000681.2:g.1389518C>A	GRCh38
NC_000019.9:g.1389517C>A , CM000681.1:g.1389517C>A	GRCh37
NC_000019.8:g.1340517C>A	NCBI36
NG_008283.1:g.10635C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000233627.14:c.228+580C>A MANE Select	ENSP00000233627.9:n.228+580C>A
ENST00000233627.13:c.228+580C>A	ENSP00000233627.9:n.228+580C>A
ENST00000313408.11:c.228+580C>A	ENSP00000364262.5:n.228+580C>A
ENST00000414651.3:c.318+580C>A	ENSP00000406630.2:n.318+580C>A
ENST00000436115.6:n.831C>A
ENST00000534853.5:c.*22+580C>A	ENSP00000442822.1:n.*22+580C>A
ENST00000535382.1:n.480+580C>A
ENST00000538523.5:n.284+580C>A
ENST00000538662.5:n.255+580C>A
ENST00000538929.5:n.318+580C>A
ENST00000539480.5:c.228+580C>A	ENSP00000443273.1:n.228+580C>A
ENST00000540530.5:n.219+580C>A
ENST00000543289.5:n.718+580C>A
ENST00000545446.5:n.519+580C>A
ENST00000546172.7:c.*224+580C>A	ENSP00000467094.1:n.*224+580C>A
ENST00000546283.5:c.228+580C>A	ENSP00000440348.1:n.228+580C>A
ENST00000618074.4:c.228+580C>A	ENSP00000477895.1:n.228+580C>A
ENST00000620479.4:c.228+580C>A	ENSP00000480984.1:n.228+580C>A
ENST00000622587.4:n.224+580C>A
NM_024407.4:c.228+580C>A	NP_077718.3:n.228+580C>A
XM_005259556.3:c.228+580C>A	XP_005259613.2:n.228+580C>A
NM_001363602.1:c.228+580C>A	NP_001350531.1:n.228+580C>A
XM_017026768.2:c.808C>A	XP_016882257.2:p.Pro270Thr
XM_024451499.1:c.249+580C>A	XP_024307267.1:n.249+580C>A
NM_024407.5:c.228+580C>A MANE Select	NP_077718.3:n.228+580C>A
NM_001363602.2:c.228+580C>A	NP_001350531.1:n.228+580C>A