LDH info

Canonical Allele Identifier: CA252758
Gene: IRF6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3416
ClinVar RCV Id: RCV000003585
dbSNP Id: rs28942093

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209801409G>A , CM000663.2:g.209801409G>A GRCh38
NC_000001.10:g.209974754G>A , CM000663.1:g.209974754G>A GRCh37
NC_000001.9:g.208041377G>A NCBI36
NG_007081.2:g.9726C>T

Transcript Alleles

HGVS Amino-acid change
NM_001206696.1:c.-112+4538C>T VV NP_001193625.1:p.=
NM_006147.3:c.5C>T VV NP_006138.1:p.Ala2Val
NM_006147.4:c.5C>T VV MANE Preferred NP_006138.1:p.Ala2Val
ENST00000367021.7:c.5C>T ENSP00000355988.3:p.Ala2Val
ENST00000456314.1:c.5C>T ENSP00000403855.1:p.Ala2Val
ENST00000542854.5:c.-112+4538C>T ENSP00000440532.1:p.=