Canonical Allele Identifier: CA6143415

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 372716
• ClinVar RCV Id: RCV000015104 ; RCV000414504 ; RCV000763270 ; RCV001778956
• dbSNP Id: rs199683937
• ExAC: 11:67379453 A / C
• gnomAD v2: 11-67379453-A-C
• gnomAD v3: 11-67611982-A-C
• gnomAD v4: 11-67611982-A-C
• MyVariant Identifiers: chr11:g.67379453A>C (hg19) ; chr11:g.67611982A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611982A>C , CM000673.2:g.67611982A>C	GRCh38
NC_000011.9:g.67379453A>C , CM000673.1:g.67379453A>C	GRCh37
NC_000011.8:g.67136029A>C	NCBI36
NG_013353.1:g.10131A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.1162+4A>C MANE Select	ENSP00000322450.6:n.1162+4A>C
ENST00000647561.1:c.1162+4A>C	ENSP00000497587.1:n.1162+4A>C
ENST00000322776.10:c.1162+4A>C	ENSP00000322450.6:n.1162+4A>C
ENST00000415352.6:c.1141+4A>C	ENSP00000395368.2:n.1141+4A>C
ENST00000526770.5:n.1445+4A>C
ENST00000527355.5:c.370-138A>C	ENSP00000432637.1:n.370-138A>C
ENST00000527923.1:n.504+4A>C
ENST00000529927.5:c.1135+4A>C	ENSP00000436766.1:n.1135+4A>C
ENST00000531250.1:n.426+4A>C
ENST00000532303.5:c.859+4A>C	ENSP00000432015.1:n.859+4A>C
ENST00000533919.5:c.566+4A>C	ENSP00000435199.1:n.566+4A>C
ENST00000534352.1:n.264A>C
NM_001166102.1:c.1135+4A>C	NP_001159574.1:n.1135+4A>C
NM_007103.3:c.1162+4A>C	NP_009034.2:n.1162+4A>C
NM_001166102.2:c.1135+4A>C	NP_001159574.1:n.1135+4A>C
NM_007103.4:c.1162+4A>C MANE Select	NP_009034.2:n.1162+4A>C