Canonical Allele Identifier: CA475412946

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378034A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610563A>C , CM000673.2:g.67610563A>C	GRCh38
NC_000011.9:g.67378034A>C , CM000673.1:g.67378034A>C	GRCh37
NC_000011.8:g.67134610A>C	NCBI36
NG_013353.1:g.8712A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.693A>C MANE Select	ENSP00000322450.6:p.Ala231=
ENST00000647561.1:c.693A>C	ENSP00000497587.1:p.Ala231=
ENST00000322776.10:c.693A>C	ENSP00000322450.6:p.Ala231=
ENST00000415352.6:c.672A>C	ENSP00000395368.2:p.Ala224=
ENST00000526169.1:n.435A>C
ENST00000526770.5:n.552A>C
ENST00000529927.5:c.666A>C	ENSP00000436766.1:p.Ala222=
ENST00000532244.5:c.390A>C	ENSP00000435202.1:p.Ala130=
ENST00000532303.5:c.390A>C	ENSP00000432015.1:p.Ala130=
ENST00000533919.5:c.171A>C	ENSP00000435199.1:p.Ala57=
NM_001166102.1:c.666A>C	NP_001159574.1:p.Ala222=
NM_007103.3:c.693A>C	NP_009034.2:p.Ala231=
NM_001166102.2:c.666A>C	NP_001159574.1:p.Ala222=
NM_007103.4:c.693A>C MANE Select	NP_009034.2:p.Ala231=