Canonical Allele Identifier: CA040295
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1511646
dbSNP Id: rs748762712

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958244G>C , CM000669.2:g.150958244G>C GRCh38
NC_000007.13:g.150655332G>C , CM000669.1:g.150655332G>C GRCh37
NC_000007.12:g.150286265G>C NCBI36
NG_008916.1:g.24683C>G , LRG_288:g.24683C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1564C>G
ENST00000262186.10:c.731C>G MANE Select ENSP00000262186.5:p.Ala244Gly
ENST00000262186.9:c.731C>G ENSP00000262186.5:p.Ala244Gly
ENST00000430723.4:c.383C>G ENSP00000387657.4:p.Ala128Gly
ENST00000532957.5:n.954C>G
NM_000238.3:c.731C>G , LRG_288t1:c.731C>G NP_000229.1:p.Ala244Gly
NM_172056.2:c.731C>G , LRG_288t2:c.731C>G NP_742053.1:p.Ala244Gly
XM_011516185.1:c.431C>G XP_011514487.1:p.Ala144Gly
XM_011516186.1:c.731C>G XP_011514488.1:p.Ala244Gly
XM_011516185.2:c.431C>G XP_011514487.1:p.Ala144Gly
XM_011516186.3:c.731C>G XP_011514488.1:p.Ala244Gly
XM_017012195.1:c.581C>G XP_016867684.1:p.Ala194Gly
XM_017012196.1:c.554C>G XP_016867685.1:p.Ala185Gly
NM_000238.4:c.731C>G MANE Select NP_000229.1:p.Ala244Gly