Canonical Allele Identifier: CA1752430942
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948259G= , CM000669.2:g.150948259G= GRCh38
NC_000007.13:g.150645347G= , CM000669.1:g.150645347G= GRCh37
NC_000007.12:g.150276280G= NCBI36
NG_008916.1:g.34668C= , LRG_288:g.34668C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3525+185C=
ENST00000262186.10:c.2692+185C= MANE Select ENSP00000262186.5:n.2692+185C=
ENST00000330883.9:c.1672+185C= ENSP00000328531.4:n.1672+185C=
ENST00000262186.9:c.2692+185C= ENSP00000262186.5:n.2692+185C=
ENST00000330883.8:c.1672+185C= ENSP00000328531.4:n.1672+185C=
NM_000238.3:c.2692+185C= , LRG_288t1:c.2692+185C= NP_000229.1:n.2692+185C=
NM_172057.2:c.1672+185C= , LRG_288t3:c.1672+185C= NP_742054.1:n.1672+185C=
XM_011516185.1:c.2392+185C= XP_011514487.1:n.2392+185C=
XM_011516186.1:c.2692+185C= XP_011514488.1:n.2692+185C=
XM_011516185.2:c.2392+185C= XP_011514487.1:n.2392+185C=
XM_011516186.3:c.2692+185C= XP_011514488.1:n.2692+185C=
XM_017012195.1:c.2542+185C= XP_016867684.1:n.2542+185C=
XM_017012196.1:c.2515+185C= XP_016867685.1:n.2515+185C=
NM_000238.4:c.2692+185C= MANE Select NP_000229.1:n.2692+185C=
NM_172057.3:c.1672+185C= NP_742054.1:n.1672+185C=