Canonical Allele Identifier: CA004420
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67181
ClinVar RCV Id: RCV000057888
dbSNP Id: rs199473508

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150952697C>G , CM000669.2:g.150952697C>G GRCh38
NC_000007.13:g.150649785C>G , CM000669.1:g.150649785C>G GRCh37
NC_000007.12:g.150280718C>G NCBI36
NG_008916.1:g.30230G>C , LRG_288:g.30230G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.583G>C
ENST00000684116.1:n.178G>C
ENST00000684241.1:n.2118G>C
ENST00000262186.10:c.1285G>C MANE Select ENSP00000262186.5:p.Ala429Pro
ENST00000330883.9:c.265G>C ENSP00000328531.4:p.Ala89Pro
ENST00000262186.9:c.1285G>C ENSP00000262186.5:p.Ala429Pro
ENST00000330883.8:c.265G>C ENSP00000328531.4:p.Ala89Pro
ENST00000430723.4:c.937G>C ENSP00000387657.4:p.Ala313Pro
ENST00000461280.1:n.572G>C
ENST00000473610.5:n.590G>C
ENST00000532957.5:n.1508G>C
NM_000238.3:c.1285G>C , LRG_288t1:c.1285G>C NP_000229.1:p.Ala429Pro
NM_001204798.1:c.265G>C NP_001191727.1:p.Ala89Pro
NM_172056.2:c.1285G>C , LRG_288t2:c.1285G>C NP_742053.1:p.Ala429Pro
NM_172057.2:c.265G>C , LRG_288t3:c.265G>C NP_742054.1:p.Ala89Pro
XM_011516185.1:c.985G>C XP_011514487.1:p.Ala329Pro
XM_011516186.1:c.1285G>C XP_011514488.1:p.Ala429Pro
XM_011516185.2:c.985G>C XP_011514487.1:p.Ala329Pro
XM_011516186.3:c.1285G>C XP_011514488.1:p.Ala429Pro
XM_017012195.1:c.1135G>C XP_016867684.1:p.Ala379Pro
XM_017012196.1:c.1108G>C XP_016867685.1:p.Ala370Pro
NM_000238.4:c.1285G>C MANE Select NP_000229.1:p.Ala429Pro
NM_001204798.2:c.265G>C NP_001191727.1:p.Ala89Pro
NM_172057.3:c.265G>C NP_742054.1:p.Ala89Pro