Canonical Allele Identifier: CA304059634

Gene: NDUFS7

Linked Data

• dbSNP Id: rs928527862
• gnomAD v4: 19-1390983-C-T
• MyVariant Identifiers: chr19:g.1390982C>T (hg19) ; chr19:g.1390983C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1390983C>T , CM000681.2:g.1390983C>T	GRCh38
NC_000019.9:g.1390982C>T , CM000681.1:g.1390982C>T	GRCh37
NC_000019.8:g.1341982C>T	NCBI36
NG_008283.1:g.12100C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.341C>T MANE Select	ENSP00000233627.9:p.Pro114Leu
ENST00000233627.13:c.341C>T	ENSP00000233627.9:p.Pro114Leu
ENST00000313408.11:c.341C>T	ENSP00000364262.5:p.Pro114Leu
ENST00000414651.3:c.431C>T	ENSP00000406630.2:p.Pro144Leu
ENST00000436115.6:n.2296C>T
ENST00000534853.5:c.*135C>T	ENSP00000442822.1:n.*135C>T
ENST00000535382.1:n.593C>T
ENST00000538523.5:n.397C>T
ENST00000538662.5:n.368C>T
ENST00000538929.5:n.431C>T
ENST00000539480.5:c.341C>T	ENSP00000443273.1:p.Pro114Leu
ENST00000540530.5:n.332C>T
ENST00000543289.5:n.831C>T
ENST00000545446.5:n.632C>T
ENST00000546172.7:c.*337C>T	ENSP00000467094.1:n.*337C>T
ENST00000546283.5:c.341C>T	ENSP00000440348.1:p.Pro114Leu
ENST00000618074.4:c.341C>T	ENSP00000477895.1:p.Pro114Leu
ENST00000620479.4:c.341C>T	ENSP00000480984.1:p.Pro114Leu
ENST00000622587.4:n.337C>T
NM_024407.4:c.341C>T	NP_077718.3:p.Pro114Leu
XM_005259556.3:c.341C>T	XP_005259613.2:p.Pro114Leu
NM_001363602.1:c.341C>T	NP_001350531.1:p.Pro114Leu
XM_024451499.1:c.362C>T	XP_024307267.1:p.Pro121Leu
NM_024407.5:c.341C>T MANE Select	NP_077718.3:p.Pro114Leu
NM_001363602.2:c.341C>T	NP_001350531.1:p.Pro114Leu