Canonical Allele Identifier: CA369861616

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150654477T>A (hg19) ; chr7:g.150957389T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957389T>A , CM000669.2:g.150957389T>A	GRCh38
NC_000007.13:g.150654477T>A , CM000669.1:g.150654477T>A	GRCh37
NC_000007.12:g.150285410T>A	NCBI36
NG_008916.1:g.25538A>T , LRG_288:g.25538A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1863A>T
ENST00000262186.10:c.1030A>T MANE Select	ENSP00000262186.5:p.Lys344Ter
ENST00000262186.9:c.1030A>T	ENSP00000262186.5:p.Lys344Ter
ENST00000430723.4:c.682A>T	ENSP00000387657.4:p.Lys228Ter
ENST00000532957.5:n.1253A>T
NM_000238.3:c.1030A>T , LRG_288t1:c.1030A>T	NP_000229.1:p.Lys344Ter
NM_172056.2:c.1030A>T , LRG_288t2:c.1030A>T	NP_742053.1:p.Lys344Ter
XM_011516185.1:c.730A>T	XP_011514487.1:p.Lys244Ter
XM_011516186.1:c.1030A>T	XP_011514488.1:p.Lys344Ter
XM_011516185.2:c.730A>T	XP_011514487.1:p.Lys244Ter
XM_011516186.3:c.1030A>T	XP_011514488.1:p.Lys344Ter
XM_017012195.1:c.880A>T	XP_016867684.1:p.Lys294Ter
XM_017012196.1:c.853A>T	XP_016867685.1:p.Lys285Ter
NM_000238.4:c.1030A>T MANE Select	NP_000229.1:p.Lys344Ter