LDH info

Canonical Allele Identifier: CA341850
Gene: FLNB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 21287
ClinVar RCV Id: RCV000020450
dbSNP Id: rs80356515

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58136115C>T , CM000665.2:g.58136115C>T GRCh38
NC_000003.11:g.58121842C>T , CM000665.1:g.58121842C>T GRCh37
NC_000003.10:g.58096882C>T NCBI36
NG_012801.1:g.132716C>T

Transcript Alleles

HGVS Amino-acid change
NM_001164317.1:c.4901C>T VV NP_001157789.1:p.Pro1634Leu
NM_001164318.1:c.4808C>T VV NP_001157790.1:p.Pro1603Leu
NM_001164319.1:c.4808C>T VV NP_001157791.1:p.Pro1603Leu
NM_001457.3:c.4808C>T VV NP_001448.2:p.Pro1603Leu
XM_005264977.1:c.4901C>T XP_005265034.1:p.Pro1634Leu
XM_005264978.1:c.4901C>T XP_005265035.1:p.Pro1634Leu
XM_005264981.1:c.4901C>T XP_005265038.1:p.Pro1634Leu
XR_940396.1:n.5046C>T
XM_005264978.2:c.4901C>T XP_005265035.1:p.Pro1634Leu
XR_001740065.1:n.5046C>T
XR_940396.2:n.5046C>T
NM_001164317.2:c.4901C>T VV NP_001157789.1:p.Pro1634Leu
NM_001164318.2:c.4808C>T VV NP_001157790.1:p.Pro1603Leu
NM_001164319.2:c.4808C>T VV NP_001157791.1:p.Pro1603Leu
NM_001457.4:c.4808C>T VV MANE Preferred NP_001448.2:p.Pro1603Leu
ENST00000295956.8:c.4808C>T ENSP00000295956.4:p.Pro1603Leu
ENST00000358537.7:c.4808C>T ENSP00000351339.3:p.Pro1603Leu
ENST00000429972.6:c.4808C>T ENSP00000415599.2:p.Pro1603Leu
ENST00000481470.5:n.1148C>T
ENST00000490882.5:c.4901C>T ENSP00000420213.1:p.Pro1634Leu
ENST00000493452.5:c.4301C>T ENSP00000418510.1:p.Pro1434Leu