Canonical Allele Identifier: CA381540514

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378897A>C (hg19) ; chr11:g.67611426A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611426A>C , CM000673.2:g.67611426A>C	GRCh38
NC_000011.9:g.67378897A>C , CM000673.1:g.67378897A>C	GRCh37
NC_000011.8:g.67135473A>C	NCBI36
NG_013353.1:g.9575A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.937A>C MANE Select	ENSP00000322450.6:p.Asn313His
ENST00000647561.1:c.937A>C	ENSP00000497587.1:p.Asn313His
ENST00000322776.10:c.937A>C	ENSP00000322450.6:p.Asn313His
ENST00000415352.6:c.916A>C	ENSP00000395368.2:p.Asn306His
ENST00000526169.1:n.656-96A>C
ENST00000526770.5:n.1220A>C
ENST00000527355.5:c.226A>C	ENSP00000432637.1:p.Asn76His
ENST00000527923.1:n.279A>C
ENST00000529927.5:c.910A>C	ENSP00000436766.1:p.Asn304His
ENST00000532303.5:c.634A>C	ENSP00000432015.1:p.Asn212His
ENST00000533919.5:c.392-51A>C	ENSP00000435199.1:n.392-51A>C
NM_001166102.1:c.910A>C	NP_001159574.1:p.Asn304His
NM_007103.3:c.937A>C	NP_009034.2:p.Asn313His
NM_001166102.2:c.910A>C	NP_001159574.1:p.Asn304His
NM_007103.4:c.937A>C MANE Select	NP_009034.2:p.Asn313His