LDH info

Canonical Allele Identifier: CA1305200
Gene: CFH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 294488
dbSNP Id: rs1061147

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196685194A>C , CM000663.2:g.196685194A>C GRCh38
NC_000001.10:g.196654324A>C , CM000663.1:g.196654324A>C GRCh37
NC_000001.9:g.194920947A>C NCBI36
NG_007259.1:g.38184A>C , LRG_47:g.38184A>C

Transcript Alleles

HGVS Amino-acid change
NM_000186.3:c.921A>C , LRG_47t1:c.921A>C NP_000177.2:p.Ala307=
NM_001014975.2:c.921A>C VV NP_001014975.1:p.Ala307=
XM_017001108.2:c.921A>C XP_016856597.1:p.Ala307=
XR_001737134.2:n.1006A>C
NM_000186.4:c.921A>C VV NP_000177.2:p.Ala307=
ENST00000359637.2:c.729A>C ENSP00000352658.2:p.Ala243=
ENST00000367429.8:c.921A>C ENSP00000356399.4:p.Ala307=
ENST00000466229.5:n.2937A>C
ENST00000630130.2:c.921A>C ENSP00000487250.1:p.Ala307=