Canonical Allele Identifier: CA402985038
Gene: NDUFS7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1390997G>T , CM000681.2:g.1390997G>T GRCh38
NC_000019.9:g.1390996G>T , CM000681.1:g.1390996G>T GRCh37
NC_000019.8:g.1341996G>T NCBI36
NG_008283.1:g.12114G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233627.14:c.355G>T MANE Select ENSP00000233627.9:p.Val119Phe
ENST00000233627.13:c.355G>T ENSP00000233627.9:p.Val119Phe
ENST00000313408.11:c.355G>T ENSP00000364262.5:p.Val119Phe
ENST00000414651.3:c.445G>T ENSP00000406630.2:p.Val149Phe
ENST00000436115.6:n.2310G>T
ENST00000534853.5:c.*149G>T ENSP00000442822.1:n.*149G>T
ENST00000535382.1:n.607G>T
ENST00000538523.5:n.411G>T
ENST00000538662.5:n.382G>T
ENST00000538929.5:n.445G>T
ENST00000539480.5:c.355G>T ENSP00000443273.1:p.Val119Phe
ENST00000540530.5:n.346G>T
ENST00000543289.5:n.845G>T
ENST00000545446.5:n.646G>T
ENST00000546172.7:c.*351G>T ENSP00000467094.1:n.*351G>T
ENST00000546283.5:c.355G>T ENSP00000440348.1:p.Val119Phe
ENST00000618074.4:c.355G>T ENSP00000477895.1:p.Val119Phe
ENST00000620479.4:c.355G>T ENSP00000480984.1:p.Val119Phe
ENST00000622587.4:n.351G>T
NM_024407.4:c.355G>T NP_077718.3:p.Val119Phe
XM_005259556.3:c.355G>T XP_005259613.2:p.Val119Phe
NM_001363602.1:c.355G>T NP_001350531.1:p.Val119Phe
XM_024451499.1:c.376G>T XP_024307267.1:p.Val126Phe
NM_024407.5:c.355G>T MANE Select NP_077718.3:p.Val119Phe
NM_001363602.2:c.355G>T NP_001350531.1:p.Val119Phe