Canonical Allele Identifier: CA6143209

Gene: NDUFV1

Linked Data

• dbSNP Id: rs765658365
• ExAC: 11:67377884 G / C
• gnomAD v2: 11-67377884-G-C
• MyVariant Identifiers: chr11:g.67377884G>C (hg19) ; chr11:g.67610413G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610413G>C , CM000673.2:g.67610413G>C	GRCh38
NC_000011.9:g.67377884G>C , CM000673.1:g.67377884G>C	GRCh37
NC_000011.8:g.67134460G>C	NCBI36
NG_013353.1:g.8562G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.543G>C MANE Select	ENSP00000322450.6:p.Leu181=
ENST00000647561.1:c.543G>C	ENSP00000497587.1:p.Leu181=
ENST00000322776.10:c.543G>C	ENSP00000322450.6:p.Leu181=
ENST00000415352.6:c.522G>C	ENSP00000395368.2:p.Leu174=
ENST00000526169.1:n.285G>C
ENST00000526770.5:n.402G>C
ENST00000529867.5:c.507G>C	ENSP00000434438.1:p.Leu169=
ENST00000529927.5:c.516G>C	ENSP00000436766.1:p.Leu172=
ENST00000530638.1:c.426G>C	ENSP00000436936.1:p.Leu142=
ENST00000532244.5:c.240G>C	ENSP00000435202.1:p.Leu80=
ENST00000532303.5:c.240G>C	ENSP00000432015.1:p.Leu80=
ENST00000532343.5:c.240G>C	ENSP00000431751.1:p.Leu80=
ENST00000533075.5:c.522G>C	ENSP00000437267.1:p.Leu174=
ENST00000533919.5:c.21G>C	ENSP00000435199.1:p.Leu7=
NM_001166102.1:c.516G>C	NP_001159574.1:p.Leu172=
NM_007103.3:c.543G>C	NP_009034.2:p.Leu181=
NM_001166102.2:c.516G>C	NP_001159574.1:p.Leu172=
NM_007103.4:c.543G>C MANE Select	NP_009034.2:p.Leu181=