Canonical Allele Identifier: CA006139
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67352
dbSNP Id: rs199472979

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951087G>A , CM000669.2:g.150951087G>A GRCh38
NC_000007.13:g.150648175G>A , CM000669.1:g.150648175G>A GRCh37
NC_000007.12:g.150279108G>A NCBI36
NG_008916.1:g.31840C>T , LRG_288:g.31840C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1277C>T
ENST00000683359.1:n.103C>T
ENST00000684241.1:n.2812C>T
ENST00000262186.10:c.1979C>T MANE Select ENSP00000262186.5:p.Ser660Leu
ENST00000330883.9:c.959C>T ENSP00000328531.4:p.Ser320Leu
ENST00000262186.9:c.1979C>T ENSP00000262186.5:p.Ser660Leu
ENST00000330883.8:c.959C>T ENSP00000328531.4:p.Ser320Leu
ENST00000430723.4:c.1631C>T ENSP00000387657.4:p.Ser544Leu
ENST00000461280.1:n.1266C>T
ENST00000473610.5:n.1611C>T
ENST00000532957.5:n.2202C>T
NM_000238.3:c.1979C>T , LRG_288t1:c.1979C>T NP_000229.1:p.Ser660Leu
NM_001204798.1:c.959C>T NP_001191727.1:p.Ser320Leu
NM_172056.2:c.1979C>T , LRG_288t2:c.1979C>T NP_742053.1:p.Ser660Leu
NM_172057.2:c.959C>T , LRG_288t3:c.959C>T NP_742054.1:p.Ser320Leu
XM_011516185.1:c.1679C>T XP_011514487.1:p.Ser560Leu
XM_011516186.1:c.1979C>T XP_011514488.1:p.Ser660Leu
XM_011516185.2:c.1679C>T XP_011514487.1:p.Ser560Leu
XM_011516186.3:c.1979C>T XP_011514488.1:p.Ser660Leu
XM_017012195.1:c.1829C>T XP_016867684.1:p.Ser610Leu
XM_017012196.1:c.1802C>T XP_016867685.1:p.Ser601Leu
NM_000238.4:c.1979C>T MANE Select NP_000229.1:p.Ser660Leu
NM_001204798.2:c.959C>T NP_001191727.1:p.Ser320Leu
NM_172057.3:c.959C>T NP_742054.1:p.Ser320Leu