Canonical Allele Identifier: CA369861577
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957371C>A , CM000669.2:g.150957371C>A GRCh38
NC_000007.13:g.150654459C>A , CM000669.1:g.150654459C>A GRCh37
NC_000007.12:g.150285392C>A NCBI36
NG_008916.1:g.25556G>T , LRG_288:g.25556G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1881G>T
ENST00000262186.10:c.1048G>T MANE Select ENSP00000262186.5:p.Ala350Ser
ENST00000262186.9:c.1048G>T ENSP00000262186.5:p.Ala350Ser
ENST00000430723.4:c.700G>T ENSP00000387657.4:p.Ala234Ser
ENST00000532957.5:n.1271G>T
NM_000238.3:c.1048G>T , LRG_288t1:c.1048G>T NP_000229.1:p.Ala350Ser
NM_172056.2:c.1048G>T , LRG_288t2:c.1048G>T NP_742053.1:p.Ala350Ser
XM_011516185.1:c.748G>T XP_011514487.1:p.Ala250Ser
XM_011516186.1:c.1048G>T XP_011514488.1:p.Ala350Ser
XM_011516185.2:c.748G>T XP_011514487.1:p.Ala250Ser
XM_011516186.3:c.1048G>T XP_011514488.1:p.Ala350Ser
XM_017012195.1:c.898G>T XP_016867684.1:p.Ala300Ser
XM_017012196.1:c.871G>T XP_016867685.1:p.Ala291Ser
NM_000238.4:c.1048G>T MANE Select NP_000229.1:p.Ala350Ser