Canonical Allele Identifier: CA458644951
Gene: KCNH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.150644577A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947489A>G , CM000669.2:g.150947489A>G GRCh38
NC_000007.13:g.150644577A>G , CM000669.1:g.150644577A>G GRCh37
NC_000007.12:g.150275510A>G NCBI36
NG_008916.1:g.35438T>C , LRG_288:g.35438T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.3824T>C
ENST00000262186.10:c.2991T>C MANE Select ENSP00000262186.5:p.Ile997=
ENST00000330883.9:c.1971T>C ENSP00000328531.4:p.Ile657=
ENST00000262186.9:c.2991T>C ENSP00000262186.5:p.Ile997=
ENST00000330883.8:c.1971T>C ENSP00000328531.4:p.Ile657=
NM_000238.3:c.2991T>C , LRG_288t1:c.2991T>C NP_000229.1:p.Ile997=
NM_172057.2:c.1971T>C , LRG_288t3:c.1971T>C NP_742054.1:p.Ile657=
XM_011516185.1:c.2691T>C XP_011514487.1:p.Ile897=
XM_011516186.1:c.*71T>C XP_011514488.1:n.*71T>C
XM_011516185.2:c.2691T>C XP_011514487.1:p.Ile897=
XM_011516186.3:c.*71T>C XP_011514488.1:n.*71T>C
XM_017012195.1:c.2841T>C XP_016867684.1:p.Ile947=
XM_017012196.1:c.2814T>C XP_016867685.1:p.Ile938=
NM_000238.4:c.2991T>C MANE Select NP_000229.1:p.Ile997=
NM_172057.3:c.1971T>C NP_742054.1:p.Ile657=