Canonical Allele Identifier: CA6143341

Gene: NDUFV1

Linked Data

• dbSNP Id: rs775492957
• ExAC: 11:67378894 G / C
• gnomAD v2: 11-67378894-G-C
• gnomAD v4: 11-67611423-G-C
• MyVariant Identifiers: chr11:g.67378894G>C (hg19) ; chr11:g.67611423G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611423G>C , CM000673.2:g.67611423G>C	GRCh38
NC_000011.9:g.67378894G>C , CM000673.1:g.67378894G>C	GRCh37
NC_000011.8:g.67135470G>C	NCBI36
NG_013353.1:g.9572G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000322776.11:c.934G>C MANE Select	ENSP00000322450.6:p.Asp312His
ENST00000647561.1:c.934G>C	ENSP00000497587.1:p.Asp312His
ENST00000322776.10:c.934G>C	ENSP00000322450.6:p.Asp312His
ENST00000415352.6:c.913G>C	ENSP00000395368.2:p.Asp305His
ENST00000526169.1:n.656-99G>C
ENST00000526770.5:n.1217G>C
ENST00000527355.5:c.223G>C	ENSP00000432637.1:p.Asp75His
ENST00000527923.1:n.276G>C
ENST00000529927.5:c.907G>C	ENSP00000436766.1:p.Asp303His
ENST00000532303.5:c.631G>C	ENSP00000432015.1:p.Asp211His
ENST00000533919.5:c.392-54G>C	ENSP00000435199.1:n.392-54G>C
NM_001166102.1:c.907G>C	NP_001159574.1:p.Asp303His
NM_007103.3:c.934G>C	NP_009034.2:p.Asp312His
NM_001166102.2:c.907G>C	NP_001159574.1:p.Asp303His
NM_007103.4:c.934G>C MANE Select	NP_009034.2:p.Asp312His