Canonical Allele Identifier: CA402985055

Gene: NDUFS7

Linked Data

• gnomAD v4: 19-1391000-A-T
• MyVariant Identifiers: chr19:g.1390999A>T (hg19) ; chr19:g.1391000A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1391000A>T , CM000681.2:g.1391000A>T	GRCh38
NC_000019.9:g.1390999A>T , CM000681.1:g.1390999A>T	GRCh37
NC_000019.8:g.1341999A>T	NCBI36
NG_008283.1:g.12117A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.358A>T MANE Select	ENSP00000233627.9:p.Met120Leu
ENST00000233627.13:c.358A>T	ENSP00000233627.9:p.Met120Leu
ENST00000313408.11:c.358A>T	ENSP00000364262.5:p.Met120Leu
ENST00000414651.3:c.448A>T	ENSP00000406630.2:p.Met150Leu
ENST00000436115.6:n.2313A>T
ENST00000534853.5:c.*152A>T	ENSP00000442822.1:n.*152A>T
ENST00000535382.1:n.610A>T
ENST00000538523.5:n.414A>T
ENST00000538662.5:n.385A>T
ENST00000538929.5:n.448A>T
ENST00000539480.5:c.358A>T	ENSP00000443273.1:p.Met120Leu
ENST00000540530.5:n.349A>T
ENST00000543289.5:n.848A>T
ENST00000545446.5:n.649A>T
ENST00000546172.7:c.*354A>T	ENSP00000467094.1:n.*354A>T
ENST00000546283.5:c.358A>T	ENSP00000440348.1:p.Met120Leu
ENST00000618074.4:c.358A>T	ENSP00000477895.1:p.Met120Leu
ENST00000620479.4:c.358A>T	ENSP00000480984.1:p.Met120Leu
ENST00000622587.4:n.354A>T
NM_024407.4:c.358A>T	NP_077718.3:p.Met120Leu
XM_005259556.3:c.358A>T	XP_005259613.2:p.Met120Leu
NM_001363602.1:c.358A>T	NP_001350531.1:p.Met120Leu
XM_024451499.1:c.379A>T	XP_024307267.1:p.Met127Leu
NM_024407.5:c.358A>T MANE Select	NP_077718.3:p.Met120Leu
NM_001363602.2:c.358A>T	NP_001350531.1:p.Met120Leu