Canonical Allele Identifier: CA504895063
Gene: NDUFS7 HGNC NCBI

Linked Data

dbSNP Id: rs981414364
gnomAD v4: 19-1390981-C-T
MyVariant Identifiers: chr19:g.1390980C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1390981C>T , CM000681.2:g.1390981C>T GRCh38
NC_000019.9:g.1390980C>T , CM000681.1:g.1390980C>T GRCh37
NC_000019.8:g.1341980C>T NCBI36
NG_008283.1:g.12098C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233627.14:c.339C>T MANE Select ENSP00000233627.9:p.Ser113=
ENST00000233627.13:c.339C>T ENSP00000233627.9:p.Ser113=
ENST00000313408.11:c.339C>T ENSP00000364262.5:p.Ser113=
ENST00000414651.3:c.429C>T ENSP00000406630.2:p.Ser143=
ENST00000436115.6:n.2294C>T
ENST00000534853.5:c.*133C>T ENSP00000442822.1:n.*133C>T
ENST00000535382.1:n.591C>T
ENST00000538523.5:n.395C>T
ENST00000538662.5:n.366C>T
ENST00000538929.5:n.429C>T
ENST00000539480.5:c.339C>T ENSP00000443273.1:p.Ser113=
ENST00000540530.5:n.330C>T
ENST00000543289.5:n.829C>T
ENST00000545446.5:n.630C>T
ENST00000546172.7:c.*335C>T ENSP00000467094.1:n.*335C>T
ENST00000546283.5:c.339C>T ENSP00000440348.1:p.Ser113=
ENST00000618074.4:c.339C>T ENSP00000477895.1:p.Ser113=
ENST00000620479.4:c.339C>T ENSP00000480984.1:p.Ser113=
ENST00000622587.4:n.335C>T
NM_024407.4:c.339C>T NP_077718.3:p.Ser113=
XM_005259556.3:c.339C>T XP_005259613.2:p.Ser113=
NM_001363602.1:c.339C>T NP_001350531.1:p.Ser113=
XM_024451499.1:c.360C>T XP_024307267.1:p.Ser120=
NM_024407.5:c.339C>T MANE Select NP_077718.3:p.Ser113=
NM_001363602.2:c.339C>T NP_001350531.1:p.Ser113=