Canonical Allele Identifier: CA1752430646

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947961_150947962delinsGC , CM000669.2:g.150947961_150947962delinsGC	GRCh38
NC_000007.13:g.150645049_150645050delinsGC , CM000669.1:g.150645049_150645050delinsGC	GRCh37
NC_000007.12:g.150275982_150275983delinsGC	NCBI36
NG_008916.1:g.34965_34966delinsGC , LRG_288:g.34965_34966delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3526-84_3526-83delinsGC
ENST00000262186.10:c.2693-84_2693-83delinsGC MANE Select	ENSP00000262186.5:n.2693-84_2693-83delinsGC
ENST00000330883.9:c.1673-84_1673-83delinsGC	ENSP00000328531.4:n.1673-84_1673-83delinsGC
ENST00000262186.9:c.2693-84_2693-83delinsGC	ENSP00000262186.5:n.2693-84_2693-83delinsGC
ENST00000330883.8:c.1673-84_1673-83delinsGC	ENSP00000328531.4:n.1673-84_1673-83delinsGC
NM_000238.3:c.2693-84_2693-83delinsGC , LRG_288t1:c.2693-84_2693-83delinsGC	NP_000229.1:n.2693-84_2693-83delinsGC
NM_172057.2:c.1673-84_1673-83delinsGC , LRG_288t3:c.1673-84_1673-83delinsGC	NP_742054.1:n.1673-84_1673-83delinsGC
XM_011516185.1:c.2393-84_2393-83delinsGC	XP_011514487.1:n.2393-84_2393-83delinsGC
XM_011516186.1:c.2693-271_2693-270delinsGC	XP_011514488.1:n.2693-271_2693-270delinsGC
XM_011516185.2:c.2393-84_2393-83delinsGC	XP_011514487.1:n.2393-84_2393-83delinsGC
XM_011516186.3:c.2693-271_2693-270delinsGC	XP_011514488.1:n.2693-271_2693-270delinsGC
XM_017012195.1:c.2543-84_2543-83delinsGC	XP_016867684.1:n.2543-84_2543-83delinsGC
XM_017012196.1:c.2516-84_2516-83delinsGC	XP_016867685.1:n.2516-84_2516-83delinsGC
NM_000238.4:c.2693-84_2693-83delinsGC MANE Select	NP_000229.1:n.2693-84_2693-83delinsGC
NM_172057.3:c.1673-84_1673-83delinsGC	NP_742054.1:n.1673-84_1673-83delinsGC