Canonical Allele Identifier: CA6143401

Gene: NDUFV1

Linked Data

• dbSNP Id: rs777114717
• ExAC: 11:67379371 G / T
• gnomAD v2: 11-67379371-G-T
• COSMIC: COSM5920170
• MyVariant Identifiers: chr11:g.67379371G>T (hg19) ; chr11:g.67611900G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611900G>T , CM000673.2:g.67611900G>T	GRCh38
NC_000011.9:g.67379371G>T , CM000673.1:g.67379371G>T	GRCh37
NC_000011.8:g.67135947G>T	NCBI36
NG_013353.1:g.10049G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.1084G>T MANE Select	ENSP00000322450.6:p.Asp362Tyr
ENST00000647561.1:c.1084G>T	ENSP00000497587.1:p.Asp362Tyr
ENST00000322776.10:c.1084G>T	ENSP00000322450.6:p.Asp362Tyr
ENST00000415352.6:c.1063G>T	ENSP00000395368.2:p.Asp355Tyr
ENST00000526169.1:n.707G>T
ENST00000526770.5:n.1367G>T
ENST00000527355.5:c.370-220G>T	ENSP00000432637.1:n.370-220G>T
ENST00000527923.1:n.426G>T
ENST00000529927.5:c.1057G>T	ENSP00000436766.1:p.Asp353Tyr
ENST00000531250.1:n.348G>T
ENST00000532303.5:c.781G>T	ENSP00000432015.1:p.Asp261Tyr
ENST00000533919.5:c.488G>T	ENSP00000435199.1:n.488G>T
ENST00000534352.1:n.182G>T
NM_001166102.1:c.1057G>T	NP_001159574.1:p.Asp353Tyr
NM_007103.3:c.1084G>T	NP_009034.2:p.Asp362Tyr
NM_001166102.2:c.1057G>T	NP_001159574.1:p.Asp353Tyr
NM_007103.4:c.1084G>T MANE Select	NP_009034.2:p.Asp362Tyr