Canonical Allele Identifier: CA004831
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67215
dbSNP Id: rs199472842

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974861C>G , CM000669.2:g.150974861C>G GRCh38
NC_000007.13:g.150671949C>G , CM000669.1:g.150671949C>G GRCh37
NC_000007.12:g.150302882C>G NCBI36
NG_008916.1:g.8066G>C , LRG_288:g.8066G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.157G>C MANE Select ENSP00000262186.5:p.Gly53Arg
ENST00000262186.9:c.157G>C ENSP00000262186.5:p.Gly53Arg
ENST00000430723.4:c.-21G>C ENSP00000387657.4:p.=
ENST00000532957.5:n.380G>C
NM_000238.3:c.157G>C , LRG_288t1:c.157G>C NP_000229.1:p.Gly53Arg
NM_172056.2:c.157G>C , LRG_288t2:c.157G>C NP_742053.1:p.Gly53Arg
XM_011516186.1:c.157G>C XP_011514488.1:p.Gly53Arg
XM_011516186.3:c.157G>C XP_011514488.1:p.Gly53Arg
XM_017012196.1:c.-21G>C XP_016867685.1:p.=
NM_000238.4:c.157G>C MANE Select NP_000229.1:p.Gly53Arg