Canonical Allele Identifier: CA402983901

Gene: NDUFS7

Linked Data

• gnomAD v4: 19-1388898-T-C
• MyVariant Identifiers: chr19:g.1388897T>C (hg19) ; chr19:g.1388898T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1388898T>C , CM000681.2:g.1388898T>C	GRCh38
NC_000019.9:g.1388897T>C , CM000681.1:g.1388897T>C	GRCh37
NC_000019.8:g.1339897T>C	NCBI36
NG_008283.1:g.10015T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.188T>C MANE Select	ENSP00000233627.9:p.Val63Ala
ENST00000233627.13:c.188T>C	ENSP00000233627.9:p.Val63Ala
ENST00000313408.11:c.188T>C	ENSP00000364262.5:p.Val63Ala
ENST00000414651.3:c.278T>C	ENSP00000406630.2:p.Val93Ala
ENST00000436115.6:n.211T>C
ENST00000534853.5:c.183T>C	ENSP00000442822.1:p.Cys61=
ENST00000535382.1:n.440T>C
ENST00000538523.5:n.244T>C
ENST00000538662.5:n.215T>C
ENST00000538929.5:n.278T>C
ENST00000539480.5:c.188T>C	ENSP00000443273.1:p.Val63Ala
ENST00000540530.5:n.179T>C
ENST00000543289.5:n.678T>C
ENST00000545446.5:n.479T>C
ENST00000546172.7:c.*184T>C	ENSP00000467094.1:n.*184T>C
ENST00000546283.5:c.188T>C	ENSP00000440348.1:p.Val63Ala
ENST00000618074.4:c.188T>C	ENSP00000477895.1:p.Val63Ala
ENST00000620479.4:c.188T>C	ENSP00000480984.1:p.Val63Ala
ENST00000622587.4:n.184T>C
NM_024407.4:c.188T>C	NP_077718.3:p.Val63Ala
XM_005259556.3:c.188T>C	XP_005259613.2:p.Val63Ala
NM_001363602.1:c.188T>C	NP_001350531.1:p.Val63Ala
XM_017026768.2:c.188T>C	XP_016882257.2:p.Val63Ala
XM_024451499.1:c.209T>C	XP_024307267.1:p.Val70Ala
NM_024407.5:c.188T>C MANE Select	NP_077718.3:p.Val63Ala
NM_001363602.2:c.188T>C	NP_001350531.1:p.Val63Ala