Canonical Allele Identifier: CA008263

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945480G>A , CM000669.2:g.150945480G>A	GRCh38
NC_000007.13:g.150642568G>A , CM000669.1:g.150642568G>A	GRCh37
NC_000007.12:g.150273501G>A	NCBI36
NG_008916.1:g.37447C>T , LRG_288:g.37447C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.3365C>T MANE Select	NP_000229.1:p.Pro1122Leu
ENST00000262186.10:c.3365C>T MANE Select	ENSP00000262186.5:p.Pro1122Leu
NM_000238.3:c.3365C>T , LRG_288t1:c.3365C>T	NP_000229.1:p.Pro1122Leu
NM_172057.2:c.2345C>T , LRG_288t3:c.2345C>T	NP_742054.1:p.Pro782Leu
NM_172057.3:c.2345C>T	NP_742054.1:p.Pro782Leu
ENST00000262186.9:c.3365C>T	ENSP00000262186.5:p.Pro1122Leu
ENST00000330883.8:c.2345C>T	ENSP00000328531.4:p.Pro782Leu
ENST00000330883.9:c.2345C>T	ENSP00000328531.4:p.Pro782Leu
ENST00000684241.1:n.4198C>T
XM_011516185.1:c.3065C>T	XP_011514487.1:p.Pro1022Leu
XM_011516185.2:c.3065C>T	XP_011514487.1:p.Pro1022Leu
XM_017012195.1:c.3215C>T	XP_016867684.1:p.Pro1072Leu
XM_017012196.1:c.3188C>T	XP_016867685.1:p.Pro1063Leu