LDH info

Canonical Allele Identifier: CA10609597
Gene: IRF6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 295175
dbSNP Id: rs1044516

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209786269G>T , CM000663.2:g.209786269G>T GRCh38
NC_000001.10:g.209959614G>T , CM000663.1:g.209959614G>T GRCh37
NC_000001.9:g.208026237G>T NCBI36
NG_007081.2:g.24866C>A

Transcript Alleles

HGVS Amino-acid change
NM_001206696.1:c.*2151C>A VV NP_001193625.1:p.=
NM_006147.3:c.*2151C>A VV NP_006138.1:p.=
NM_006147.4:c.*2151C>A VV MANE Preferred NP_006138.1:p.=
ENST00000367021.7:c.*2151C>A ENSP00000355988.3:p.=
ENST00000542854.5:c.*2151C>A ENSP00000440532.1:p.=