Canonical Allele Identifier: CA381540967
Gene: NDUFV1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611519C>T , CM000673.2:g.67611519C>T GRCh38
NC_000011.9:g.67378990C>T , CM000673.1:g.67378990C>T GRCh37
NC_000011.8:g.67135566C>T NCBI36
NG_013353.1:g.9668C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000322776.11:c.1030C>T MANE Select ENSP00000322450.6:p.Gln344Ter
ENST00000647561.1:c.1030C>T ENSP00000497587.1:p.Gln344Ter
ENST00000322776.10:c.1030C>T ENSP00000322450.6:p.Gln344Ter
ENST00000415352.6:c.1009C>T ENSP00000395368.2:p.Gln337Ter
ENST00000526169.1:n.656-3C>T
ENST00000526770.5:n.1313C>T
ENST00000527355.5:c.319C>T ENSP00000432637.1:p.Gln107Ter
ENST00000527923.1:n.372C>T
ENST00000529927.5:c.1003C>T ENSP00000436766.1:p.Gln335Ter
ENST00000532303.5:c.727C>T ENSP00000432015.1:p.Gln243Ter
ENST00000533919.5:c.434C>T ENSP00000435199.1:n.434C>T
NM_001166102.1:c.1003C>T NP_001159574.1:p.Gln335Ter
NM_007103.3:c.1030C>T NP_009034.2:p.Gln344Ter
NM_001166102.2:c.1003C>T NP_001159574.1:p.Gln335Ter
NM_007103.4:c.1030C>T MANE Select NP_009034.2:p.Gln344Ter