Canonical Allele Identifier: CA10631380

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 305737
• ClinVar RCV Id: RCV000270772 ; RCV000363161
• dbSNP Id: rs563140258
• gnomAD v2: 11-67374365-T-C
• gnomAD v3: 11-67606894-T-C
• gnomAD v4: 11-67606894-T-C
• MyVariant Identifiers: chr11:g.67374365T>C (hg19) ; chr11:g.67606894T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67606894T>C , CM000673.2:g.67606894T>C	GRCh38
NC_000011.9:g.67374365T>C , CM000673.1:g.67374365T>C	GRCh37
NC_000011.8:g.67130941T>C	NCBI36
NG_013353.1:g.5043T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647561.1:c.-111T>C	ENSP00000497587.1:n.-111T>C
ENST00000322776.10:c.-111T>C	ENSP00000322450.6:n.-111T>C
NM_001166102.1:c.-111T>C	NP_001159574.1:n.-111T>C
NM_007103.3:c.-111T>C	NP_009034.2:n.-111T>C