Canonical Allele Identifier: CA9043370

Gene: NDUFS7

Linked Data

• dbSNP Id: rs780820244
• ExAC: 19:1391100 A / C
• gnomAD v2: 19-1391100-A-C
• gnomAD v3: 19-1391101-A-C
• gnomAD v4: 19-1391101-A-C
• MyVariant Identifiers: chr19:g.1391100A>C (hg19) ; chr19:g.1391101A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1391101A>C , CM000681.2:g.1391101A>C	GRCh38
NC_000019.9:g.1391100A>C , CM000681.1:g.1391100A>C	GRCh37
NC_000019.8:g.1342100A>C	NCBI36
NG_008283.1:g.12218A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.409-18A>C MANE Select	ENSP00000233627.9:n.409-18A>C
ENST00000233627.13:c.409-18A>C	ENSP00000233627.9:n.409-18A>C
ENST00000313408.11:c.409-18A>C	ENSP00000364262.5:n.409-18A>C
ENST00000414651.3:c.499-18A>C	ENSP00000406630.2:n.499-18A>C
ENST00000436115.6:n.2364-18A>C
ENST00000534853.5:c.*203-18A>C	ENSP00000442822.1:n.*203-18A>C
ENST00000535382.1:n.661-18A>C
ENST00000538523.5:n.465-18A>C
ENST00000538662.5:n.486A>C
ENST00000538929.5:n.499-18A>C
ENST00000539480.5:c.409-18A>C	ENSP00000443273.1:n.409-18A>C
ENST00000540530.5:n.400-18A>C
ENST00000543289.5:n.949A>C
ENST00000545446.5:n.700-18A>C
ENST00000546172.7:c.*405-18A>C	ENSP00000467094.1:n.*405-18A>C
ENST00000546283.5:c.409-18A>C	ENSP00000440348.1:n.409-18A>C
ENST00000618074.4:c.427+16A>C	ENSP00000477895.1:n.427+16A>C
ENST00000620479.4:c.409-10A>C	ENSP00000480984.1:n.409-10A>C
ENST00000622587.4:n.455A>C
NM_024407.4:c.409-18A>C	NP_077718.3:n.409-18A>C
XM_005259556.3:c.409-18A>C	XP_005259613.2:n.409-18A>C
NM_001363602.1:c.409-18A>C	NP_001350531.1:n.409-18A>C
XM_024451499.1:c.430-18A>C	XP_024307267.1:n.430-18A>C
NM_024407.5:c.409-18A>C MANE Select	NP_077718.3:n.409-18A>C
NM_001363602.2:c.409-18A>C	NP_001350531.1:n.409-18A>C