LDH info

Canonical Allele Identifier: CA260104
Gene: ABCC8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 35617
dbSNP Id: rs193922402

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395611G>A , CM000673.2:g.17395611G>A GRCh38
NC_000011.9:g.17417158G>A , CM000673.1:g.17417158G>A GRCh37
NC_000011.8:g.17373734G>A NCBI36
NG_008867.1:g.86292C>T

Transcript Alleles

HGVS Amino-acid change
NM_000352.4:c.4306C>T VV NP_000343.2:p.Arg1436Ter
NM_001287174.1:c.4309C>T VV NP_001274103.1:p.Arg1437Ter
XM_011520331.1:c.4306C>T XP_011518633.1:p.Arg1436Ter
XM_011520332.1:c.4309C>T XP_011518634.1:p.Arg1437Ter
XM_011520333.1:c.2806C>T XP_011518635.1:p.Arg936Ter
XR_930890.1:n.4372C>T
NM_001351295.1:c.4372C>T VV NP_001338224.1:p.Arg1458Ter
NM_001351296.1:c.4306C>T VV NP_001338225.1:p.Arg1436Ter
NM_001351297.1:c.4303C>T VV NP_001338226.1:p.Arg1435Ter
NR_147094.1:n.4601C>T
XM_017018197.2:c.4375C>T XP_016873686.1:p.Arg1459Ter
XM_017018199.1:c.4372C>T XP_016873688.1:p.Arg1458Ter
XM_017018201.2:c.4375C>T XP_016873690.1:p.Arg1459Ter
XM_017018202.1:c.2872C>T XP_016873691.1:p.Arg958Ter
XM_017018204.1:c.2263C>T XP_016873693.1:p.Arg755Ter
XM_024448668.1:c.2674C>T XP_024304436.1:p.Arg892Ter
XR_001747945.2:n.4447C>T
XR_001747946.2:n.4378C>T
XR_002957189.1:n.6161C>T
ENST00000302539.8:c.4309C>T ENSP00000303960.4:p.Arg1437Ter
ENST00000389817.7:c.4306C>T ENSP00000374467.3:p.Arg1436Ter
ENST00000525022.1:n.305C>T
ENST00000526037.5:n.170C>T
ENST00000526168.5:n.94C>T
ENST00000531642.5:n.142C>T