Canonical Allele Identifier: CA1752452916
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150970077G= , CM000669.2:g.150970077G= GRCh38
NC_000007.13:g.150667165G= , CM000669.1:g.150667165G= GRCh37
NC_000007.12:g.150298098G= NCBI36
NG_008916.1:g.12850C= , LRG_288:g.12850C=

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.307+4634C= MANE Select ENSP00000262186.5:n.307+4634C=
ENST00000262186.9:c.307+4634C= ENSP00000262186.5:n.307+4634C=
ENST00000430723.4:c.130+4634C= ENSP00000387657.4:n.130+4634C=
ENST00000532957.5:n.530+4634C=
NM_000238.3:c.307+4634C= , LRG_288t1:c.307+4634C= NP_000229.1:n.307+4634C=
NM_172056.2:c.307+4634C= , LRG_288t2:c.307+4634C= NP_742053.1:n.307+4634C=
XM_011516185.1:c.7+4293C= XP_011514487.1:n.7+4293C=
XM_011516186.1:c.307+4634C= XP_011514488.1:n.307+4634C=
XM_011516185.2:c.7+4293C= XP_011514487.1:n.7+4293C=
XM_011516186.3:c.307+4634C= XP_011514488.1:n.307+4634C=
XM_017012196.1:c.130+4634C= XP_016867685.1:n.130+4634C=
NM_000238.4:c.307+4634C= MANE Select NP_000229.1:n.307+4634C=