Canonical Allele Identifier: CA369853060
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947618T>G , CM000669.2:g.150947618T>G GRCh38
NC_000007.13:g.150644706T>G , CM000669.1:g.150644706T>G GRCh37
NC_000007.12:g.150275639T>G NCBI36
NG_008916.1:g.35309A>C , LRG_288:g.35309A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3786A>C
ENST00000262186.10:c.2953A>C MANE Select ENSP00000262186.5:p.Asn985His
ENST00000330883.9:c.1933A>C ENSP00000328531.4:p.Asn645His
ENST00000262186.9:c.2953A>C ENSP00000262186.5:p.Asn985His
ENST00000330883.8:c.1933A>C ENSP00000328531.4:p.Asn645His
NM_000238.3:c.2953A>C , LRG_288t1:c.2953A>C NP_000229.1:p.Asn985His
NM_172057.2:c.1933A>C , LRG_288t3:c.1933A>C NP_742054.1:p.Asn645His
XM_011516185.1:c.2653A>C XP_011514487.1:p.Asn885His
XM_011516186.1:c.*33A>C XP_011514488.1:n.*33A>C
XM_011516185.2:c.2653A>C XP_011514487.1:p.Asn885His
XM_011516186.3:c.*33A>C XP_011514488.1:n.*33A>C
XM_017012195.1:c.2803A>C XP_016867684.1:p.Asn935His
XM_017012196.1:c.2776A>C XP_016867685.1:p.Asn926His
NM_000238.4:c.2953A>C MANE Select NP_000229.1:p.Asn985His
NM_172057.3:c.1933A>C NP_742054.1:p.Asn645His