Canonical Allele Identifier: CA381536822

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67377930G>C (hg19) ; chr11:g.67610459G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610459G>C , CM000673.2:g.67610459G>C	GRCh38
NC_000011.9:g.67377930G>C , CM000673.1:g.67377930G>C	GRCh37
NC_000011.8:g.67134506G>C	NCBI36
NG_013353.1:g.8608G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.589G>C MANE Select	ENSP00000322450.6:p.Val197Leu
ENST00000647561.1:c.589G>C	ENSP00000497587.1:p.Val197Leu
ENST00000322776.10:c.589G>C	ENSP00000322450.6:p.Val197Leu
ENST00000415352.6:c.568G>C	ENSP00000395368.2:p.Val190Leu
ENST00000526169.1:n.331G>C
ENST00000526770.5:n.448G>C
ENST00000529927.5:c.562G>C	ENSP00000436766.1:p.Val188Leu
ENST00000532244.5:c.286G>C	ENSP00000435202.1:p.Val96Leu
ENST00000532303.5:c.286G>C	ENSP00000432015.1:p.Val96Leu
ENST00000532343.5:c.286G>C
ENST00000533919.5:c.67G>C	ENSP00000435199.1:p.Val23Leu
NM_001166102.1:c.562G>C	NP_001159574.1:p.Val188Leu
NM_007103.3:c.589G>C	NP_009034.2:p.Val197Leu
NM_001166102.2:c.562G>C	NP_001159574.1:p.Val188Leu
NM_007103.4:c.589G>C MANE Select	NP_009034.2:p.Val197Leu