Canonical Allele Identifier: CA1752420081
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150959702G= , CM000669.2:g.150959702G= GRCh38
NC_000007.13:g.150656790G= , CM000669.1:g.150656790G= GRCh37
NC_000007.12:g.150287723G= NCBI36
NG_008916.1:g.23225C= , LRG_288:g.23225C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1175C=
ENST00000262186.10:c.342C= MANE Select ENSP00000262186.5:p.Pro114=
ENST00000262186.9:c.342C= ENSP00000262186.5:p.Pro114=
ENST00000430723.4:c.165C= ENSP00000387657.4:p.Pro55=
ENST00000532957.5:n.565C=
NM_000238.3:c.342C= , LRG_288t1:c.342C= NP_000229.1:p.Pro114=
NM_172056.2:c.342C= , LRG_288t2:c.342C= NP_742053.1:p.Pro114=
XM_011516185.1:c.42C= XP_011514487.1:p.Pro14=
XM_011516186.1:c.342C= XP_011514488.1:p.Pro114=
XM_011516185.2:c.42C= XP_011514487.1:p.Pro14=
XM_011516186.3:c.342C= XP_011514488.1:p.Pro114=
XM_017012195.1:c.192C= XP_016867684.1:p.Pro64=
XM_017012196.1:c.165C= XP_016867685.1:p.Pro55=
NM_000238.4:c.342C= MANE Select NP_000229.1:p.Pro114=