Canonical Allele Identifier: CA458645932
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs1563167811
MyVariant Identifiers: chr7:g.150654406G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957318G>A , CM000669.2:g.150957318G>A GRCh38
NC_000007.13:g.150654406G>A , CM000669.1:g.150654406G>A GRCh37
NC_000007.12:g.150285339G>A NCBI36
NG_008916.1:g.25609C>T , LRG_288:g.25609C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1934C>T
ENST00000262186.10:c.1101C>T MANE Select ENSP00000262186.5:p.Thr367=
ENST00000262186.9:c.1101C>T ENSP00000262186.5:p.Thr367=
ENST00000430723.4:c.753C>T ENSP00000387657.4:p.Thr251=
ENST00000532957.5:n.1324C>T
NM_000238.3:c.1101C>T , LRG_288t1:c.1101C>T NP_000229.1:p.Thr367=
NM_172056.2:c.1101C>T , LRG_288t2:c.1101C>T NP_742053.1:p.Thr367=
XM_011516185.1:c.801C>T XP_011514487.1:p.Thr267=
XM_011516186.1:c.1101C>T XP_011514488.1:p.Thr367=
XM_011516185.2:c.801C>T XP_011514487.1:p.Thr267=
XM_011516186.3:c.1101C>T XP_011514488.1:p.Thr367=
XM_017012195.1:c.951C>T XP_016867684.1:p.Thr317=
XM_017012196.1:c.924C>T XP_016867685.1:p.Thr308=
NM_000238.4:c.1101C>T MANE Select NP_000229.1:p.Thr367=