Canonical Allele Identifier: CA007162

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948446T>G , CM000669.2:g.150948446T>G	GRCh38
NC_000007.13:g.150645534T>G , CM000669.1:g.150645534T>G	GRCh37
NC_000007.12:g.150276467T>G	NCBI36
NG_008916.1:g.34481A>C , LRG_288:g.34481A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.2690A>C MANE Select	NP_000229.1:p.Lys897Thr
ENST00000262186.10:c.2690A>C MANE Select	ENSP00000262186.5:p.Lys897Thr
NM_000238.3:c.2690A>C , LRG_288t1:c.2690A>C	NP_000229.1:p.Lys897Thr
NM_172057.2:c.1670A>C , LRG_288t3:c.1670A>C	NP_742054.1:p.Lys557Thr
NM_172057.3:c.1670A>C	NP_742054.1:p.Lys557Thr
ENST00000262186.9:c.2690A>C	ENSP00000262186.5:p.Lys897Thr
ENST00000330883.8:c.1670A>C	ENSP00000328531.4:p.Lys557Thr
ENST00000330883.9:c.1670A>C	ENSP00000328531.4:p.Lys557Thr
ENST00000684241.1:n.3523A>C
XM_011516185.1:c.2390A>C	XP_011514487.1:p.Lys797Thr
XM_011516185.2:c.2390A>C	XP_011514487.1:p.Lys797Thr
XM_011516186.1:c.2690A>C	XP_011514488.1:p.Lys897Thr
XM_011516186.3:c.2690A>C	XP_011514488.1:p.Lys897Thr
XM_017012195.1:c.2540A>C	XP_016867684.1:p.Lys847Thr
XM_017012196.1:c.2513A>C	XP_016867685.1:p.Lys838Thr