Canonical Allele Identifier: CA783448971

Gene: NDUFS7

Linked Data

• dbSNP Id: rs1314647372
• gnomAD v4: 19-1388969-A-C
• MyVariant Identifiers: chr19:g.1388968A>C (hg19) ; chr19:g.1388969A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1388969A>C , CM000681.2:g.1388969A>C	GRCh38
NC_000019.9:g.1388968A>C , CM000681.1:g.1388968A>C	GRCh37
NC_000019.8:g.1339968A>C	NCBI36
NG_008283.1:g.10086A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000233627.14:c.228+31A>C MANE Select	ENSP00000233627.9:n.228+31A>C
ENST00000233627.13:c.228+31A>C	ENSP00000233627.9:n.228+31A>C
ENST00000313408.11:c.228+31A>C	ENSP00000364262.5:n.228+31A>C
ENST00000414651.3:c.318+31A>C	ENSP00000406630.2:n.318+31A>C
ENST00000436115.6:n.282A>C
ENST00000534853.5:c.*22+31A>C	ENSP00000442822.1:n.*22+31A>C
ENST00000535382.1:n.480+31A>C
ENST00000538523.5:n.284+31A>C
ENST00000538662.5:n.255+31A>C
ENST00000538929.5:n.318+31A>C
ENST00000539480.5:c.228+31A>C	ENSP00000443273.1:n.228+31A>C
ENST00000540530.5:n.219+31A>C
ENST00000543289.5:n.718+31A>C
ENST00000545446.5:n.519+31A>C
ENST00000546172.7:c.*224+31A>C	ENSP00000467094.1:n.*224+31A>C
ENST00000546283.5:c.228+31A>C	ENSP00000440348.1:n.228+31A>C
ENST00000618074.4:c.228+31A>C	ENSP00000477895.1:n.228+31A>C
ENST00000620479.4:c.228+31A>C	ENSP00000480984.1:n.228+31A>C
ENST00000622587.4:n.224+31A>C
NM_024407.4:c.228+31A>C	NP_077718.3:n.228+31A>C
XM_005259556.3:c.228+31A>C	XP_005259613.2:n.228+31A>C
NM_001363602.1:c.228+31A>C	NP_001350531.1:n.228+31A>C
XM_017026768.2:c.259A>C	XP_016882257.2:p.Ser87Arg
XM_024451499.1:c.249+31A>C	XP_024307267.1:n.249+31A>C
NM_024407.5:c.228+31A>C MANE Select	NP_077718.3:n.228+31A>C
NM_001363602.2:c.228+31A>C	NP_001350531.1:n.228+31A>C