Canonical Allele Identifier: CA475417442

Gene: NDUFV1

Linked Data

• dbSNP Id: rs750833433
• MyVariant Identifiers: chr11:g.67378983G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611512G>C , CM000673.2:g.67611512G>C	GRCh38
NC_000011.9:g.67378983G>C , CM000673.1:g.67378983G>C	GRCh37
NC_000011.8:g.67135559G>C	NCBI36
NG_013353.1:g.9661G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000322776.11:c.1023G>C MANE Select	ENSP00000322450.6:p.Ala341=
ENST00000647561.1:c.1023G>C	ENSP00000497587.1:p.Ala341=
ENST00000322776.10:c.1023G>C	ENSP00000322450.6:p.Ala341=
ENST00000415352.6:c.1002G>C	ENSP00000395368.2:p.Ala334=
ENST00000526169.1:n.656-10G>C
ENST00000526770.5:n.1306G>C
ENST00000527355.5:c.312G>C	ENSP00000432637.1:p.Ala104=
ENST00000527923.1:n.365G>C
ENST00000529927.5:c.996G>C	ENSP00000436766.1:p.Ala332=
ENST00000532303.5:c.720G>C	ENSP00000432015.1:p.Ala240=
ENST00000533919.5:c.427G>C	ENSP00000435199.1:n.427G>C
NM_001166102.1:c.996G>C	NP_001159574.1:p.Ala332=
NM_007103.3:c.1023G>C	NP_009034.2:p.Ala341=
NM_001166102.2:c.996G>C	NP_001159574.1:p.Ala332=
NM_007103.4:c.1023G>C MANE Select	NP_009034.2:p.Ala341=