LDH info

Canonical Allele Identifier: CA126673
Gene: CFH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 16562
ClinVar RCV Id: RCV000018030
dbSNP Id: rs387906550

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196673968T>G , CM000663.2:g.196673968T>G GRCh38
NC_000001.10:g.196643098T>G , CM000663.1:g.196643098T>G GRCh37
NC_000001.9:g.194909721T>G NCBI36
NG_007259.1:g.26958T>G , LRG_47:g.26958T>G

Transcript Alleles

HGVS Amino-acid change
NM_000186.3:c.350+6T>G , LRG_47t1:c.350+6T>G NP_000177.2:p.=
NM_001014975.2:c.350+6T>G VV NP_001014975.1:p.=
XM_017001108.2:c.350+6T>G XP_016856597.1:p.=
XR_001737134.2:n.435+6T>G
ENST00000359637.2:c.350+6T>G ENSP00000352658.2:p.=
ENST00000367429.8:c.350+6T>G ENSP00000356399.4:p.=
ENST00000630130.2:c.350+6T>G ENSP00000487250.1:p.=