Canonical Allele Identifier: CA6143443

Gene: NDUFV1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67612155G>A , CM000673.2:g.67612155G>A	GRCh38
NC_000011.9:g.67379626G>A , CM000673.1:g.67379626G>A	GRCh37
NC_000011.8:g.67136202G>A	NCBI36
NG_013353.1:g.10304G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007103.4:c.1198G>A MANE Select	NP_009034.2:p.Val400Met
ENST00000322776.11:c.1198G>A MANE Select	ENSP00000322450.6:p.Val400Met
NM_001166102.1:c.1171G>A	NP_001159574.1:p.Val391Met
NM_001166102.2:c.1171G>A	NP_001159574.1:p.Val391Met
NM_007103.3:c.1198G>A	NP_009034.2:p.Val400Met
ENST00000322776.10:c.1198G>A	ENSP00000322450.6:p.Val400Met
ENST00000415352.6:c.1177G>A	ENSP00000395368.2:p.Val393Met
ENST00000526770.5:n.1481G>A
ENST00000527355.5:c.405G>A	ENSP00000432637.1:n.405G>A
ENST00000527923.1:n.540G>A
ENST00000529927.5:c.1171G>A	ENSP00000436766.1:p.Val391Met
ENST00000531250.1:n.462G>A
ENST00000532303.5:c.895G>A	ENSP00000432015.1:p.Val299Met
ENST00000533919.5:c.602G>A	ENSP00000435199.1:n.602G>A
ENST00000534352.1:n.437G>A
ENST00000647561.1:c.1198G>A	ENSP00000497587.1:p.Val400Met