Canonical Allele Identifier: CA600236945

Gene: NDUFV1

Linked Data

• dbSNP Id: rs1462875290
• gnomAD v2: 11-67379361-C-T
• gnomAD v4: 11-67611890-C-T
• MyVariant Identifiers: chr11:g.67379361C>T (hg19) ; chr11:g.67611890C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611890C>T , CM000673.2:g.67611890C>T	GRCh38
NC_000011.9:g.67379361C>T , CM000673.1:g.67379361C>T	GRCh37
NC_000011.8:g.67135937C>T	NCBI36
NG_013353.1:g.10039C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000322776.11:c.1081-7C>T MANE Select	ENSP00000322450.6:n.1081-7C>T
ENST00000647561.1:c.1081-7C>T	ENSP00000497587.1:n.1081-7C>T
ENST00000322776.10:c.1081-7C>T	ENSP00000322450.6:n.1081-7C>T
ENST00000415352.6:c.1060-7C>T	ENSP00000395368.2:n.1060-7C>T
ENST00000526169.1:n.704-7C>T
ENST00000526770.5:n.1364-7C>T
ENST00000527355.5:c.370-230C>T	ENSP00000432637.1:n.370-230C>T
ENST00000527923.1:n.423-7C>T
ENST00000529927.5:c.1054-7C>T	ENSP00000436766.1:n.1054-7C>T
ENST00000531250.1:n.338C>T
ENST00000532303.5:c.778-7C>T	ENSP00000432015.1:n.778-7C>T
ENST00000533919.5:c.485-7C>T	ENSP00000435199.1:n.485-7C>T
ENST00000534352.1:n.172C>T
NM_001166102.1:c.1054-7C>T	NP_001159574.1:n.1054-7C>T
NM_007103.3:c.1081-7C>T	NP_009034.2:n.1081-7C>T
NM_001166102.2:c.1054-7C>T	NP_001159574.1:n.1054-7C>T
NM_007103.4:c.1081-7C>T MANE Select	NP_009034.2:n.1081-7C>T