Canonical Allele Identifier: CA402985359

Gene: NDUFS7

Linked Data

• dbSNP Id: rs1214765624
• gnomAD v4: 19-1391046-G-T
• MyVariant Identifiers: chr19:g.1391045G>T (hg19) ; chr19:g.1391046G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1391046G>T , CM000681.2:g.1391046G>T	GRCh38
NC_000019.9:g.1391045G>T , CM000681.1:g.1391045G>T	GRCh37
NC_000019.8:g.1342045G>T	NCBI36
NG_008283.1:g.12163G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.404G>T MANE Select	ENSP00000233627.9:p.Arg135Leu
ENST00000233627.13:c.404G>T	ENSP00000233627.9:p.Arg135Leu
ENST00000313408.11:c.404G>T	ENSP00000364262.5:p.Arg135Leu
ENST00000414651.3:c.494G>T	ENSP00000406630.2:p.Arg165Leu
ENST00000436115.6:n.2359G>T
ENST00000534853.5:c.*198G>T	ENSP00000442822.1:n.*198G>T
ENST00000535382.1:n.656G>T
ENST00000538523.5:n.460G>T
ENST00000538662.5:n.431G>T
ENST00000538929.5:n.494G>T
ENST00000539480.5:c.404G>T	ENSP00000443273.1:p.Arg135Leu
ENST00000540530.5:n.395G>T
ENST00000543289.5:n.894G>T
ENST00000545446.5:n.695G>T
ENST00000546172.7:c.*400G>T	ENSP00000467094.1:n.*400G>T
ENST00000546283.5:c.404G>T	ENSP00000440348.1:p.Arg135Leu
ENST00000618074.4:c.404G>T	ENSP00000477895.1:p.Arg135Leu
ENST00000620479.4:c.404G>T	ENSP00000480984.1:p.Arg135Leu
ENST00000622587.4:n.400G>T
NM_024407.4:c.404G>T	NP_077718.3:p.Arg135Leu
XM_005259556.3:c.404G>T	XP_005259613.2:p.Arg135Leu
NM_001363602.1:c.404G>T	NP_001350531.1:p.Arg135Leu
XM_024451499.1:c.425G>T	XP_024307267.1:p.Arg142Leu
NM_024407.5:c.404G>T MANE Select	NP_077718.3:p.Arg135Leu
NM_001363602.2:c.404G>T	NP_001350531.1:p.Arg135Leu