Canonical Allele Identifier: CA1752420003
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150959661T= , CM000669.2:g.150959661T= GRCh38
NC_000007.13:g.150656749T= , CM000669.1:g.150656749T= GRCh37
NC_000007.12:g.150287682T= NCBI36
NG_008916.1:g.23266A= , LRG_288:g.23266A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1216A=
ENST00000262186.10:c.383A= MANE Select ENSP00000262186.5:p.Asn128=
ENST00000262186.9:c.383A= ENSP00000262186.5:p.Asn128=
ENST00000430723.4:c.206A= ENSP00000387657.4:p.Asn69=
ENST00000532957.5:n.606A=
NM_000238.3:c.383A= , LRG_288t1:c.383A= NP_000229.1:p.Asn128=
NM_172056.2:c.383A= , LRG_288t2:c.383A= NP_742053.1:p.Asn128=
XM_011516185.1:c.83A= XP_011514487.1:p.Asn28=
XM_011516186.1:c.383A= XP_011514488.1:p.Asn128=
XM_011516185.2:c.83A= XP_011514487.1:p.Asn28=
XM_011516186.3:c.383A= XP_011514488.1:p.Asn128=
XM_017012195.1:c.233A= XP_016867684.1:p.Asn78=
XM_017012196.1:c.206A= XP_016867685.1:p.Asn69=
NM_000238.4:c.383A= MANE Select NP_000229.1:p.Asn128=