Canonical Allele Identifier: CA402985270

Gene: NDUFS7

Linked Data

• dbSNP Id: rs2082552988
• gnomAD v4: 19-1391032-G-A
• MyVariant Identifiers: chr19:g.1391031G>A (hg19) ; chr19:g.1391032G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1391032G>A , CM000681.2:g.1391032G>A	GRCh38
NC_000019.9:g.1391031G>A , CM000681.1:g.1391031G>A	GRCh37
NC_000019.8:g.1342031G>A	NCBI36
NG_008283.1:g.12149G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.390G>A MANE Select	ENSP00000233627.9:p.Met130Ile
ENST00000233627.13:c.390G>A	ENSP00000233627.9:p.Met130Ile
ENST00000313408.11:c.390G>A	ENSP00000364262.5:p.Met130Ile
ENST00000414651.3:c.480G>A	ENSP00000406630.2:p.Met160Ile
ENST00000436115.6:n.2345G>A
ENST00000534853.5:c.*184G>A	ENSP00000442822.1:n.*184G>A
ENST00000535382.1:n.642G>A
ENST00000538523.5:n.446G>A
ENST00000538662.5:n.417G>A
ENST00000538929.5:n.480G>A
ENST00000539480.5:c.390G>A	ENSP00000443273.1:p.Met130Ile
ENST00000540530.5:n.381G>A
ENST00000543289.5:n.880G>A
ENST00000545446.5:n.681G>A
ENST00000546172.7:c.*386G>A	ENSP00000467094.1:n.*386G>A
ENST00000546283.5:c.390G>A	ENSP00000440348.1:p.Met130Ile
ENST00000618074.4:c.390G>A	ENSP00000477895.1:p.Met130Ile
ENST00000620479.4:c.390G>A	ENSP00000480984.1:p.Met130Ile
ENST00000622587.4:n.386G>A
NM_024407.4:c.390G>A	NP_077718.3:p.Met130Ile
XM_005259556.3:c.390G>A	XP_005259613.2:p.Met130Ile
NM_001363602.1:c.390G>A	NP_001350531.1:p.Met130Ile
XM_024451499.1:c.411G>A	XP_024307267.1:p.Met137Ile
NM_024407.5:c.390G>A MANE Select	NP_077718.3:p.Met130Ile
NM_001363602.2:c.390G>A	NP_001350531.1:p.Met130Ile