Canonical Allele Identifier: CA475417128

Gene: NDUFV1

Linked Data

• gnomAD v4: 11-67611473-C-T
• MyVariant Identifiers: chr11:g.67378944C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611473C>T , CM000673.2:g.67611473C>T	GRCh38
NC_000011.9:g.67378944C>T , CM000673.1:g.67378944C>T	GRCh37
NC_000011.8:g.67135520C>T	NCBI36
NG_013353.1:g.9622C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.984C>T MANE Select	ENSP00000322450.6:p.Pro328=
ENST00000647561.1:c.984C>T	ENSP00000497587.1:p.Pro328=
ENST00000322776.10:c.984C>T	ENSP00000322450.6:p.Pro328=
ENST00000415352.6:c.963C>T	ENSP00000395368.2:p.Pro321=
ENST00000526169.1:n.656-49C>T
ENST00000526770.5:n.1267C>T
ENST00000527355.5:c.273C>T	ENSP00000432637.1:p.Pro91=
ENST00000527923.1:n.326C>T
ENST00000529927.5:c.957C>T	ENSP00000436766.1:p.Pro319=
ENST00000532303.5:c.681C>T	ENSP00000432015.1:p.Pro227=
ENST00000533919.5:c.392-4C>T	ENSP00000435199.1:n.392-4C>T
NM_001166102.1:c.957C>T	NP_001159574.1:p.Pro319=
NM_007103.3:c.984C>T	NP_009034.2:p.Pro328=
NM_001166102.2:c.957C>T	NP_001159574.1:p.Pro319=
NM_007103.4:c.984C>T MANE Select	NP_009034.2:p.Pro328=