Canonical Allele Identifier: CA381540966

Gene: NDUFV1

Linked Data

• gnomAD v4: 11-67611519-C-G
• MyVariant Identifiers: chr11:g.67378990C>G (hg19) ; chr11:g.67611519C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611519C>G , CM000673.2:g.67611519C>G	GRCh38
NC_000011.9:g.67378990C>G , CM000673.1:g.67378990C>G	GRCh37
NC_000011.8:g.67135566C>G	NCBI36
NG_013353.1:g.9668C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000322776.11:c.1030C>G MANE Select	ENSP00000322450.6:p.Gln344Glu
ENST00000647561.1:c.1030C>G	ENSP00000497587.1:p.Gln344Glu
ENST00000322776.10:c.1030C>G	ENSP00000322450.6:p.Gln344Glu
ENST00000415352.6:c.1009C>G	ENSP00000395368.2:p.Gln337Glu
ENST00000526169.1:n.656-3C>G
ENST00000526770.5:n.1313C>G
ENST00000527355.5:c.319C>G	ENSP00000432637.1:p.Gln107Glu
ENST00000527923.1:n.372C>G
ENST00000529927.5:c.1003C>G	ENSP00000436766.1:p.Gln335Glu
ENST00000532303.5:c.727C>G	ENSP00000432015.1:p.Gln243Glu
ENST00000533919.5:c.434C>G	ENSP00000435199.1:n.434C>G
NM_001166102.1:c.1003C>G	NP_001159574.1:p.Gln335Glu
NM_007103.3:c.1030C>G	NP_009034.2:p.Gln344Glu
NM_001166102.2:c.1003C>G	NP_001159574.1:p.Gln335Glu
NM_007103.4:c.1030C>G MANE Select	NP_009034.2:p.Gln344Glu