Canonical Allele Identifier: CA631300619
Gene: NDUFS7 HGNC NCBI

Linked Data

dbSNP Id: rs1251358130
gnomAD v2: 19-1391098-G-T
gnomAD v3: 19-1391099-G-T
gnomAD v4: 19-1391099-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1391099G>T , CM000681.2:g.1391099G>T GRCh38
NC_000019.9:g.1391098G>T , CM000681.1:g.1391098G>T GRCh37
NC_000019.8:g.1342098G>T NCBI36
NG_008283.1:g.12216G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233627.14:c.409-20G>T MANE Select ENSP00000233627.9:n.409-20G>T
ENST00000233627.13:c.409-20G>T ENSP00000233627.9:n.409-20G>T
ENST00000313408.11:c.409-20G>T ENSP00000364262.5:n.409-20G>T
ENST00000414651.3:c.499-20G>T ENSP00000406630.2:n.499-20G>T
ENST00000436115.6:n.2364-20G>T
ENST00000534853.5:c.*203-20G>T ENSP00000442822.1:n.*203-20G>T
ENST00000535382.1:n.661-20G>T
ENST00000538523.5:n.465-20G>T
ENST00000538662.5:n.484G>T
ENST00000538929.5:n.499-20G>T
ENST00000539480.5:c.409-20G>T ENSP00000443273.1:n.409-20G>T
ENST00000540530.5:n.400-20G>T
ENST00000543289.5:n.947G>T
ENST00000545446.5:n.700-20G>T
ENST00000546172.7:c.*405-20G>T ENSP00000467094.1:n.*405-20G>T
ENST00000546283.5:c.409-20G>T ENSP00000440348.1:n.409-20G>T
ENST00000618074.4:c.427+14G>T ENSP00000477895.1:n.427+14G>T
ENST00000620479.4:c.409-12G>T ENSP00000480984.1:n.409-12G>T
ENST00000622587.4:n.453G>T
NM_024407.4:c.409-20G>T NP_077718.3:n.409-20G>T
XM_005259556.3:c.409-20G>T XP_005259613.2:n.409-20G>T
NM_001363602.1:c.409-20G>T NP_001350531.1:n.409-20G>T
XM_024451499.1:c.430-20G>T XP_024307267.1:n.430-20G>T
NM_024407.5:c.409-20G>T MANE Select NP_077718.3:n.409-20G>T
NM_001363602.2:c.409-20G>T NP_001350531.1:n.409-20G>T