Canonical Allele Identifier: CA381540770

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378939A>T (hg19) ; chr11:g.67611468A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611468A>T , CM000673.2:g.67611468A>T	GRCh38
NC_000011.9:g.67378939A>T , CM000673.1:g.67378939A>T	GRCh37
NC_000011.8:g.67135515A>T	NCBI36
NG_013353.1:g.9617A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.979A>T MANE Select	ENSP00000322450.6:p.Ile327Phe
ENST00000647561.1:c.979A>T	ENSP00000497587.1:p.Ile327Phe
ENST00000322776.10:c.979A>T	ENSP00000322450.6:p.Ile327Phe
ENST00000415352.6:c.958A>T	ENSP00000395368.2:p.Ile320Phe
ENST00000526169.1:n.656-54A>T
ENST00000526770.5:n.1262A>T
ENST00000527355.5:c.268A>T	ENSP00000432637.1:p.Ile90Phe
ENST00000527923.1:n.321A>T
ENST00000529927.5:c.952A>T	ENSP00000436766.1:p.Ile318Phe
ENST00000532303.5:c.676A>T	ENSP00000432015.1:p.Ile226Phe
ENST00000533919.5:c.392-9A>T	ENSP00000435199.1:n.392-9A>T
NM_001166102.1:c.952A>T	NP_001159574.1:p.Ile318Phe
NM_007103.3:c.979A>T	NP_009034.2:p.Ile327Phe
NM_001166102.2:c.952A>T	NP_001159574.1:p.Ile318Phe
NM_007103.4:c.979A>T MANE Select	NP_009034.2:p.Ile327Phe