LDH info

Canonical Allele Identifier: CA16041436
Gene: ABCC8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371608
ClinVar RCV Id: RCV000412164
dbSNP Id: rs1057517406

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395931C>A , CM000673.2:g.17395931C>A GRCh38
NC_000011.9:g.17417478C>A , CM000673.1:g.17417478C>A GRCh37
NC_000011.8:g.17374054C>A NCBI36
NG_008867.1:g.85972G>T

Transcript Alleles

HGVS Amino-acid change
NM_000352.4:c.4120-1G>T VV NP_000343.2:p.=
NM_001287174.1:c.4123-1G>T VV NP_001274103.1:p.=
XM_011520331.1:c.4120-1G>T XP_011518633.1:p.=
XM_011520332.1:c.4123-1G>T XP_011518634.1:p.=
XM_011520333.1:c.2620-1G>T XP_011518635.1:p.=
XR_930890.1:n.4186-1G>T
NM_001351295.1:c.4186-1G>T VV NP_001338224.1:p.=
NM_001351296.1:c.4120-1G>T VV NP_001338225.1:p.=
NM_001351297.1:c.4117-1G>T VV NP_001338226.1:p.=
NR_147094.1:n.4415-1G>T
XM_017018197.2:c.4189-1G>T XP_016873686.1:p.=
XM_017018199.1:c.4186-1G>T XP_016873688.1:p.=
XM_017018201.2:c.4189-1G>T XP_016873690.1:p.=
XM_017018202.1:c.2686-1G>T XP_016873691.1:p.=
XM_017018204.1:c.2077-1G>T XP_016873693.1:p.=
XM_024448668.1:c.2488-1G>T XP_024304436.1:p.=
XR_001747945.2:n.4261-1G>T
XR_001747946.2:n.4192-1G>T
XR_002957189.1:n.5841G>T
ENST00000302539.8:c.4123-1G>T ENSP00000303960.4:p.=
ENST00000389817.7:c.4120-1G>T ENSP00000374467.3:p.=
ENST00000528374.1:n.602-1G>T
ENST00000532220.1:n.594-1G>T