Canonical Allele Identifier: CA402985819

Gene: NDUFS7

Linked Data

• dbSNP Id: rs1372577839
• gnomAD v2: 19-1391131-T-C
• gnomAD v3: 19-1391132-T-C
• gnomAD v4: 19-1391132-T-C
• MyVariant Identifiers: chr19:g.1391131T>C (hg19) ; chr19:g.1391132T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1391132T>C , CM000681.2:g.1391132T>C	GRCh38
NC_000019.9:g.1391131T>C , CM000681.1:g.1391131T>C	GRCh37
NC_000019.8:g.1342131T>C	NCBI36
NG_008283.1:g.12249T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.422T>C MANE Select	ENSP00000233627.9:p.Met141Thr
ENST00000233627.13:c.422T>C	ENSP00000233627.9:p.Met141Thr
ENST00000313408.11:c.422T>C	ENSP00000364262.5:p.Met141Thr
ENST00000414651.3:c.512T>C	ENSP00000406630.2:p.Met171Thr
ENST00000436115.6:n.2377T>C
ENST00000534853.5:c.*216T>C	ENSP00000442822.1:n.*216T>C
ENST00000535382.1:n.674T>C
ENST00000538523.5:n.478T>C
ENST00000538662.5:n.517T>C
ENST00000538929.5:n.512T>C
ENST00000539480.5:c.422T>C	ENSP00000443273.1:p.Met141Thr
ENST00000540530.5:n.413T>C
ENST00000543289.5:n.980T>C
ENST00000545446.5:n.713T>C
ENST00000546172.7:c.*418T>C	ENSP00000467094.1:n.*418T>C
ENST00000546283.5:c.422T>C	ENSP00000440348.1:p.Met141Thr
ENST00000618074.4:c.429T>C	ENSP00000477895.1:p.Asn143=
ENST00000620479.4:c.426T>C	ENSP00000480984.1:p.Asp142=
ENST00000622587.4:n.486T>C
NM_024407.4:c.422T>C	NP_077718.3:p.Met141Thr
XM_005259556.3:c.422T>C	XP_005259613.2:p.Met141Thr
NM_001363602.1:c.422T>C	NP_001350531.1:p.Met141Thr
XM_024451499.1:c.443T>C	XP_024307267.1:p.Met148Thr
NM_024407.5:c.422T>C MANE Select	NP_077718.3:p.Met141Thr
NM_001363602.2:c.422T>C	NP_001350531.1:p.Met141Thr