LDH info

Canonical Allele Identifier: CA256863
Gene: KCNE1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13476
dbSNP Id: rs28933384
MyVariant Identifiers: chr21:g.34449615G>A (hg38)

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34449615G>A , CM000683.2:g.34449615G>A GRCh38
NG_009091.1:g.66701C>T , LRG_290:g.66701C>T

Transcript Alleles

HGVS Amino-acid change
NM_000219.5:c.20C>T VV NP_000210.2:p.Thr7Ile
NM_001127668.3:c.20C>T VV NP_001121140.1:p.Thr7Ile
NM_001127669.3:c.20C>T VV NP_001121141.1:p.Thr7Ile
NM_001127670.3:c.20C>T VV NP_001121142.1:p.Thr7Ile
NM_001270402.2:c.20C>T VV NP_001257331.1:p.Thr7Ile
NM_001270403.2:c.20C>T VV NP_001257332.1:p.Thr7Ile
NM_001270404.2:c.20C>T VV NP_001257333.1:p.Thr7Ile
NM_001270405.2:c.20C>T VV NP_001257334.1:p.Thr7Ile
XM_011529555.1:c.13+5771C>T XP_011527857.1:p.=
XM_011529557.1:c.279+9039C>T XP_011527859.1:p.=
XM_017028342.1:c.83C>T XP_016883831.1:p.Thr28Ile
NM_000219.6:c.20C>T VV MANE Preferred NP_000210.2:p.Thr7Ile
NM_001127669.4:c.20C>T VV NP_001121141.1:p.Thr7Ile
ENST00000337385.7:c.20C>T ENSP00000337255.3:p.Thr7Ile
ENST00000399284.1:c.20C>T ENSP00000382225.1:p.Thr7Ile
ENST00000399286.2:c.20C>T ENSP00000382226.2:p.Thr7Ile
ENST00000399289.7:c.20C>T ENSP00000382228.3:p.Thr7Ile
ENST00000416357.6:c.20C>T ENSP00000416258.2:p.Thr7Ile
ENST00000432085.5:c.20C>T ENSP00000412498.1:p.Thr7Ile
ENST00000611936.1:c.20C>T ENSP00000478215.1:p.Thr7Ile
ENST00000621601.4:c.20C>T ENSP00000483895.1:p.Thr7Ile