Canonical Allele Identifier: CA369861833

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801413795
• MyVariant Identifiers: chr7:g.150654554G>A (hg19) ; chr7:g.150957466G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957466G>A , CM000669.2:g.150957466G>A	GRCh38
NC_000007.13:g.150654554G>A , CM000669.1:g.150654554G>A	GRCh37
NC_000007.12:g.150285487G>A	NCBI36
NG_008916.1:g.25461C>T , LRG_288:g.25461C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1786C>T
ENST00000262186.10:c.953C>T MANE Select	ENSP00000262186.5:p.Ser318Phe
ENST00000262186.9:c.953C>T	ENSP00000262186.5:p.Ser318Phe
ENST00000430723.4:c.605C>T	ENSP00000387657.4:p.Ser202Phe
ENST00000532957.5:n.1176C>T
NM_000238.3:c.953C>T , LRG_288t1:c.953C>T	NP_000229.1:p.Ser318Phe
NM_172056.2:c.953C>T , LRG_288t2:c.953C>T	NP_742053.1:p.Ser318Phe
XM_011516185.1:c.653C>T	XP_011514487.1:p.Ser218Phe
XM_011516186.1:c.953C>T	XP_011514488.1:p.Ser318Phe
XM_011516185.2:c.653C>T	XP_011514487.1:p.Ser218Phe
XM_011516186.3:c.953C>T	XP_011514488.1:p.Ser318Phe
XM_017012195.1:c.803C>T	XP_016867684.1:p.Ser268Phe
XM_017012196.1:c.776C>T	XP_016867685.1:p.Ser259Phe
NM_000238.4:c.953C>T MANE Select	NP_000229.1:p.Ser318Phe