LDH info

Canonical Allele Identifier: CA7860216
Gene: MEFV HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 375252
ClinVar RCV Id: RCV000416328
dbSNP Id: rs755659290

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3249480T>C , CM000678.2:g.3249480T>C GRCh38
NC_000016.9:g.3299480T>C , CM000678.1:g.3299480T>C GRCh37
NC_000016.8:g.3239481T>C NCBI36
NG_007871.1:g.12148A>G , LRG_190:g.12148A>G

Transcript Alleles

HGVS Amino-acid change
NM_000243.2:c.1211A>G , LRG_190t1:c.1211A>G NP_000234.1:p.His404Arg
NM_001198536.1:c.578A>G VV NP_001185465.1:p.His193Arg
XM_017023236.2:c.1211A>G XP_016878725.1:p.His404Arg
XR_001751903.1:n.1400A>G
ENST00000219596.5:c.1211A>G ENSP00000219596.1:p.His404Arg
ENST00000339854.8:c.671A>G ENSP00000339639.4:p.His224Arg
ENST00000536379.5:n.578A>G ENSP00000445079.1:p.His193Arg
ENST00000536980.5:c.578A>G ENSP00000444178.1:p.His193Arg
ENST00000537682.5:c.1211A>G ENSP00000438611.1:p.His404Arg
ENST00000538326.5:c.1211A>G ENSP00000437486.1:p.His404Arg
ENST00000539145.5:n.278-2234A>G ENSP00000444471.1:p.=
ENST00000541159.5:n.578A>G ENSP00000438711.1:p.His193Arg
ENST00000542898.5:c.1304A>G ENSP00000444615.1:p.His435Arg
ENST00000570511.5:n.911-2234A>G ENSP00000458312.1:p.=
ENST00000572244.5:n.278-2933A>G ENSP00000461186.1:p.=
ENST00000574583.5:n.278-2234A>G ENSP00000460269.1:p.=
ENST00000576315.5:n.278-2234A>G ENSP00000460551.1:p.=
ENST00000621655.1:n.578A>G ENSP00000481436.1:p.His193Arg