Canonical Allele Identifier: CA11734796

Gene: NDUFC1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.139301217G>A , CM000666.2:g.139301217G>A	GRCh38
NC_000004.11:g.140222371G>A , CM000666.1:g.140222371G>A	GRCh37
NC_000004.10:g.140441821G>A	NCBI36
NG_053037.1:g.4751G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001184989.2:c.-222+1199C>T MANE Select	NP_001171918.1:n.-222+1199C>T
ENST00000394223.2:c.-222+1199C>T MANE Select	ENSP00000377770.1:n.-222+1199C>T
NM_001184987.1:c.-163+1199C>T	NP_001171916.1:n.-163+1199C>T
NM_001184988.1:c.-199+1199C>T	NP_001171917.1:n.-199+1199C>T
NM_001184989.1:c.-222+1199C>T	NP_001171918.1:n.-222+1199C>T
NM_001184990.1:c.-159+1199C>T	NP_001171919.1:n.-159+1199C>T
NM_002494.3:c.-416C>T	NP_002485.1:n.-416C>T
ENST00000394223.1:c.-222+1199C>T	ENSP00000377770.1:n.-222+1199C>T
ENST00000394225.6:n.111+1199C>T
ENST00000394228.5:c.-199+1199C>T	ENSP00000377775.1:n.-199+1199C>T
ENST00000503453.5:n.129+75C>T
ENST00000513022.5:n.17C>T
ENST00000539387.5:c.-163+1199C>T	ENSP00000439882.1:n.-163+1199C>T
ENST00000676245.1:c.-778C>T	ENSP00000502731.1:n.-778C>T