Canonical Allele Identifier: CA381540960

Gene: NDUFV1

Linked Data

• dbSNP Id: rs1211738107
• gnomAD v2: 11-67378987-G-C
• gnomAD v3: 11-67611516-G-C
• gnomAD v4: 11-67611516-G-C
• MyVariant Identifiers: chr11:g.67378987G>C (hg19) ; chr11:g.67611516G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611516G>C , CM000673.2:g.67611516G>C	GRCh38
NC_000011.9:g.67378987G>C , CM000673.1:g.67378987G>C	GRCh37
NC_000011.8:g.67135563G>C	NCBI36
NG_013353.1:g.9665G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000322776.11:c.1027G>C MANE Select	ENSP00000322450.6:p.Val343Leu
ENST00000647561.1:c.1027G>C	ENSP00000497587.1:p.Val343Leu
ENST00000322776.10:c.1027G>C	ENSP00000322450.6:p.Val343Leu
ENST00000415352.6:c.1006G>C	ENSP00000395368.2:p.Val336Leu
ENST00000526169.1:n.656-6G>C
ENST00000526770.5:n.1310G>C
ENST00000527355.5:c.316G>C	ENSP00000432637.1:p.Val106Leu
ENST00000527923.1:n.369G>C
ENST00000529927.5:c.1000G>C	ENSP00000436766.1:p.Val334Leu
ENST00000532303.5:c.724G>C	ENSP00000432015.1:p.Val242Leu
ENST00000533919.5:c.431G>C	ENSP00000435199.1:n.431G>C
NM_001166102.1:c.1000G>C	NP_001159574.1:p.Val334Leu
NM_007103.3:c.1027G>C	NP_009034.2:p.Val343Leu
NM_001166102.2:c.1000G>C	NP_001159574.1:p.Val334Leu
NM_007103.4:c.1027G>C MANE Select	NP_009034.2:p.Val343Leu