Canonical Allele Identifier: CA1076119839
Gene: NDUFS4 HGNC NCBI

Linked Data

dbSNP Id: rs1748792700
gnomAD v3: 5-53560617-C-T
gnomAD v4: 5-53560617-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53560617C>T , CM000667.2:g.53560617C>T GRCh38
NC_000005.9:g.52856447C>T , CM000667.1:g.52856447C>T GRCh37
NC_000005.8:g.52892204C>T NCBI36
NG_008200.1:g.4983C>T

Transcript Alleles

HGVS Amino-acid Change
XM_017009491.1:c.-46C>T XP_016864980.1:n.-46C>T