Canonical Allele Identifier: CA458872217
Gene: KCNH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.150655358C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958270C>G , CM000669.2:g.150958270C>G GRCh38
NC_000007.13:g.150655358C>G , CM000669.1:g.150655358C>G GRCh37
NC_000007.12:g.150286291C>G NCBI36
NG_008916.1:g.24657G>C , LRG_288:g.24657G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1538G>C
ENST00000262186.10:c.705G>C MANE Select ENSP00000262186.5:p.Val235=
ENST00000262186.9:c.705G>C ENSP00000262186.5:p.Val235=
ENST00000430723.4:c.357G>C ENSP00000387657.4:p.Val119=
ENST00000532957.5:n.928G>C
NM_000238.3:c.705G>C , LRG_288t1:c.705G>C NP_000229.1:p.Val235=
NM_172056.2:c.705G>C , LRG_288t2:c.705G>C NP_742053.1:p.Val235=
XM_011516185.1:c.405G>C XP_011514487.1:p.Val135=
XM_011516186.1:c.705G>C XP_011514488.1:p.Val235=
XM_011516185.2:c.405G>C XP_011514487.1:p.Val135=
XM_011516186.3:c.705G>C XP_011514488.1:p.Val235=
XM_017012195.1:c.555G>C XP_016867684.1:p.Val185=
XM_017012196.1:c.528G>C XP_016867685.1:p.Val176=
NM_000238.4:c.705G>C MANE Select NP_000229.1:p.Val235=