Canonical Allele Identifier: CA475410528

Gene: NDUFV1

Linked Data

• dbSNP Id: rs1180067243
• MyVariant Identifiers: chr11:g.67376947A>T (hg19) ; chr11:g.67609476A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67609476A>T , CM000673.2:g.67609476A>T	GRCh38
NC_000011.9:g.67376947A>T , CM000673.1:g.67376947A>T	GRCh37
NC_000011.8:g.67133523A>T	NCBI36
NG_013353.1:g.7625A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.351A>T MANE Select	ENSP00000322450.6:p.Ala117=
ENST00000647561.1:c.351A>T	ENSP00000497587.1:p.Ala117=
ENST00000322776.10:c.351A>T	ENSP00000322450.6:p.Ala117=
ENST00000415352.6:c.330A>T	ENSP00000395368.2:p.Ala110=
ENST00000524838.5:n.408A>T
ENST00000525086.5:n.424A>T
ENST00000526169.1:n.93A>T
ENST00000526770.5:n.210A>T
ENST00000528314.1:c.48A>T	ENSP00000434581.1:p.Ala16=
ENST00000528377.1:n.522A>T
ENST00000529867.5:c.315A>T	ENSP00000434438.1:p.Ala105=
ENST00000529927.5:c.324A>T	ENSP00000436766.1:p.Ala108=
ENST00000530014.5:n.646A>T
ENST00000530103.5:c.*245A>T	ENSP00000434575.1:n.*245A>T
ENST00000530638.1:c.234A>T	ENSP00000436936.1:p.Ala78=
ENST00000532244.5:c.48A>T	ENSP00000435202.1:p.Ala16=
ENST00000532303.5:c.48A>T	ENSP00000432015.1:p.Ala16=
ENST00000532343.5:c.48A>T	ENSP00000431751.1:p.Ala16=
ENST00000533075.5:c.330A>T	ENSP00000437267.1:p.Ala110=
ENST00000534139.5:n.467A>T
NM_001166102.1:c.324A>T	NP_001159574.1:p.Ala108=
NM_007103.3:c.351A>T	NP_009034.2:p.Ala117=
NM_001166102.2:c.324A>T	NP_001159574.1:p.Ala108=
NM_007103.4:c.351A>T MANE Select	NP_009034.2:p.Ala117=