Canonical Allele Identifier: CA475412980

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378040G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610569G>C , CM000673.2:g.67610569G>C	GRCh38
NC_000011.9:g.67378040G>C , CM000673.1:g.67378040G>C	GRCh37
NC_000011.8:g.67134616G>C	NCBI36
NG_013353.1:g.8718G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.699G>C MANE Select	ENSP00000322450.6:p.Val233=
ENST00000647561.1:c.699G>C	ENSP00000497587.1:p.Val233=
ENST00000322776.10:c.699G>C	ENSP00000322450.6:p.Val233=
ENST00000415352.6:c.678G>C	ENSP00000395368.2:p.Val226=
ENST00000526169.1:n.441G>C
ENST00000526770.5:n.558G>C
ENST00000529927.5:c.672G>C	ENSP00000436766.1:p.Val224=
ENST00000532244.5:c.396G>C	ENSP00000435202.1:p.Val132=
ENST00000532303.5:c.396G>C	ENSP00000432015.1:p.Val132=
ENST00000533919.5:c.177G>C	ENSP00000435199.1:p.Val59=
NM_001166102.1:c.672G>C	NP_001159574.1:p.Val224=
NM_007103.3:c.699G>C	NP_009034.2:p.Val233=
NM_001166102.2:c.672G>C	NP_001159574.1:p.Val224=
NM_007103.4:c.699G>C MANE Select	NP_009034.2:p.Val233=