Canonical Allele Identifier: CA1752460680
Community Standard Title: NM_000238.4(KCNH2):c.307+585G=
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974126C= , CM000669.2:g.150974126C= GRCh38
NC_000007.13:g.150671214C= , CM000669.1:g.150671214C= GRCh37
NC_000007.12:g.150302147C= NCBI36
NG_008916.1:g.8801G= , LRG_288:g.8801G=

Transcript Alleles

HGVS Amino-acid Change
NM_000238.4:c.307+585G= MANE Select NP_000229.1:n.307+585G=
ENST00000262186.10:c.307+585G= MANE Select ENSP00000262186.5:n.307+585G=
NM_000238.3:c.307+585G= , LRG_288t1:c.307+585G= NP_000229.1:n.307+585G=
NM_172056.2:c.307+585G= , LRG_288t2:c.307+585G= NP_742053.1:n.307+585G=
ENST00000262186.9:c.307+585G= ENSP00000262186.5:n.307+585G=
ENST00000430723.4:c.130+585G= ENSP00000387657.4:n.130+585G=
ENST00000532957.5:n.530+585G=
XM_011516185.1:c.7+244G= XP_011514487.1:n.7+244G=
XM_011516185.2:c.7+244G= XP_011514487.1:n.7+244G=
XM_011516186.1:c.307+585G= XP_011514488.1:n.307+585G=
XM_011516186.3:c.307+585G= XP_011514488.1:n.307+585G=
XM_017012196.1:c.130+585G= XP_016867685.1:n.130+585G=