Canonical Allele Identifier: CA381535280

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67376958A>C (hg19) ; chr11:g.67609487A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67609487A>C , CM000673.2:g.67609487A>C	GRCh38
NC_000011.9:g.67376958A>C , CM000673.1:g.67376958A>C	GRCh37
NC_000011.8:g.67133534A>C	NCBI36
NG_013353.1:g.7636A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.362A>C MANE Select	ENSP00000322450.6:p.Glu121Ala
ENST00000647561.1:c.362A>C	ENSP00000497587.1:p.Glu121Ala
ENST00000322776.10:c.362A>C	ENSP00000322450.6:p.Glu121Ala
ENST00000415352.6:c.341A>C	ENSP00000395368.2:p.Glu114Ala
ENST00000524838.5:n.419A>C
ENST00000525086.5:n.435A>C
ENST00000526169.1:n.104A>C
ENST00000526770.5:n.221A>C
ENST00000528314.1:c.59A>C	ENSP00000434581.1:p.Glu20Ala
ENST00000528377.1:n.533A>C
ENST00000529867.5:c.326A>C	ENSP00000434438.1:p.Glu109Ala
ENST00000529927.5:c.335A>C	ENSP00000436766.1:p.Glu112Ala
ENST00000530014.5:n.657A>C
ENST00000530103.5:c.*256A>C	ENSP00000434575.1:n.*256A>C
ENST00000530638.1:c.245A>C	ENSP00000436936.1:p.Glu82Ala
ENST00000532244.5:c.59A>C	ENSP00000435202.1:p.Glu20Ala
ENST00000532303.5:c.59A>C	ENSP00000432015.1:p.Glu20Ala
ENST00000532343.5:c.59A>C	ENSP00000431751.1:p.Glu20Ala
ENST00000533075.5:c.341A>C	ENSP00000437267.1:p.Glu114Ala
ENST00000534139.5:n.478A>C
NM_001166102.1:c.335A>C	NP_001159574.1:p.Glu112Ala
NM_007103.3:c.362A>C	NP_009034.2:p.Glu121Ala
NM_001166102.2:c.335A>C	NP_001159574.1:p.Glu112Ala
NM_007103.4:c.362A>C MANE Select	NP_009034.2:p.Glu121Ala