Canonical Allele Identifier: CA369855247

Gene: KCNH2

Linked Data

• COSMIC: COSM1673670 ; COSM4360756
• MyVariant Identifiers: chr7:g.150646086T>C (hg19) ; chr7:g.150948998T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948998T>C , CM000669.2:g.150948998T>C	GRCh38
NC_000007.13:g.150646086T>C , CM000669.1:g.150646086T>C	GRCh37
NC_000007.12:g.150277019T>C	NCBI36
NG_008916.1:g.33929A>G , LRG_288:g.33929A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3283A>G
ENST00000262186.10:c.2450A>G MANE Select	ENSP00000262186.5:p.Lys817Arg
ENST00000330883.9:c.1430A>G	ENSP00000328531.4:p.Lys477Arg
ENST00000262186.9:c.2450A>G	ENSP00000262186.5:p.Lys817Arg
ENST00000330883.8:c.1430A>G	ENSP00000328531.4:p.Lys477Arg
NM_000238.3:c.2450A>G , LRG_288t1:c.2450A>G	NP_000229.1:p.Lys817Arg
NM_172057.2:c.1430A>G , LRG_288t3:c.1430A>G	NP_742054.1:p.Lys477Arg
XM_011516185.1:c.2150A>G	XP_011514487.1:p.Lys717Arg
XM_011516186.1:c.2450A>G	XP_011514488.1:p.Lys817Arg
XM_011516185.2:c.2150A>G	XP_011514487.1:p.Lys717Arg
XM_011516186.3:c.2450A>G	XP_011514488.1:p.Lys817Arg
XM_017012195.1:c.2300A>G	XP_016867684.1:p.Lys767Arg
XM_017012196.1:c.2273A>G	XP_016867685.1:p.Lys758Arg
NM_000238.4:c.2450A>G MANE Select	NP_000229.1:p.Lys817Arg
NM_172057.3:c.1430A>G	NP_742054.1:p.Lys477Arg