Canonical Allele Identifier: CA1752430189
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947768G= , CM000669.2:g.150947768G= GRCh38
NC_000007.13:g.150644856G= , CM000669.1:g.150644856G= GRCh37
NC_000007.12:g.150275789G= NCBI36
NG_008916.1:g.35159C= , LRG_288:g.35159C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3636C=
ENST00000262186.10:c.2803C= MANE Select ENSP00000262186.5:p.Pro935=
ENST00000330883.9:c.1783C= ENSP00000328531.4:p.Pro595=
ENST00000262186.9:c.2803C= ENSP00000262186.5:p.Pro935=
ENST00000330883.8:c.1783C= ENSP00000328531.4:p.Pro595=
NM_000238.3:c.2803C= , LRG_288t1:c.2803C= NP_000229.1:p.Pro935=
NM_172057.2:c.1783C= , LRG_288t3:c.1783C= NP_742054.1:p.Pro595=
XM_011516185.1:c.2503C= XP_011514487.1:p.Pro835=
XM_011516186.1:c.2693-77C= XP_011514488.1:n.2693-77C=
XM_011516185.2:c.2503C= XP_011514487.1:p.Pro835=
XM_011516186.3:c.2693-77C= XP_011514488.1:n.2693-77C=
XM_017012195.1:c.2653C= XP_016867684.1:p.Pro885=
XM_017012196.1:c.2626C= XP_016867685.1:p.Pro876=
NM_000238.4:c.2803C= MANE Select NP_000229.1:p.Pro935=
NM_172057.3:c.1783C= NP_742054.1:p.Pro595=