Canonical Allele Identifier: CA381540927

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378976T>C (hg19) ; chr11:g.67611505T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611505T>C , CM000673.2:g.67611505T>C	GRCh38
NC_000011.9:g.67378976T>C , CM000673.1:g.67378976T>C	GRCh37
NC_000011.8:g.67135552T>C	NCBI36
NG_013353.1:g.9654T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.1016T>C MANE Select	ENSP00000322450.6:p.Phe339Ser
ENST00000647561.1:c.1016T>C	ENSP00000497587.1:p.Phe339Ser
ENST00000322776.10:c.1016T>C	ENSP00000322450.6:p.Phe339Ser
ENST00000415352.6:c.995T>C	ENSP00000395368.2:p.Phe332Ser
ENST00000526169.1:n.656-17T>C
ENST00000526770.5:n.1299T>C
ENST00000527355.5:c.305T>C	ENSP00000432637.1:p.Phe102Ser
ENST00000527923.1:n.358T>C
ENST00000529927.5:c.989T>C	ENSP00000436766.1:p.Phe330Ser
ENST00000532303.5:c.713T>C	ENSP00000432015.1:p.Phe238Ser
ENST00000533919.5:c.420T>C	ENSP00000435199.1:n.420T>C
NM_001166102.1:c.989T>C	NP_001159574.1:p.Phe330Ser
NM_007103.3:c.1016T>C	NP_009034.2:p.Phe339Ser
NM_001166102.2:c.989T>C	NP_001159574.1:p.Phe330Ser
NM_007103.4:c.1016T>C MANE Select	NP_009034.2:p.Phe339Ser