Canonical Allele Identifier: CA1752411433

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801208597
• gnomAD v4: 7-150952405-T-TGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952406_150952408dup , CM000669.2:g.150952406_150952408dup	GRCh38
NC_000007.13:g.150649494_150649496dup , CM000669.1:g.150649494_150649496dup	GRCh37
NC_000007.12:g.150280427_150280429dup	NCBI36
NG_008916.1:g.30519_30521dup , LRG_288:g.30519_30521dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.855+17_855+19dup
ENST00000684116.1:n.450+17_450+19dup
ENST00000684241.1:n.2390+17_2390+19dup
ENST00000262186.10:c.1557+17_1557+19dup MANE Select	ENSP00000262186.5:n.1557+17_1557+19dup
ENST00000330883.9:c.537+17_537+19dup	ENSP00000328531.4:n.537+17_537+19dup
ENST00000262186.9:c.1557+17_1557+19dup	ENSP00000262186.5:n.1557+17_1557+19dup
ENST00000330883.8:c.537+17_537+19dup	ENSP00000328531.4:n.537+17_537+19dup
ENST00000430723.4:c.1209+17_1209+19dup	ENSP00000387657.4:n.1209+17_1209+19dup
ENST00000461280.1:n.844+17_844+19dup
ENST00000473610.5:n.862+17_862+19dup
ENST00000532957.5:n.1780+17_1780+19dup
NM_000238.3:c.1557+17_1557+19dup , LRG_288t1:c.1557+17_1557+19dup	NP_000229.1:n.1557+17_1557+19dup
NM_001204798.1:c.537+17_537+19dup	NP_001191727.1:n.537+17_537+19dup
NM_172056.2:c.1557+17_1557+19dup , LRG_288t2:c.1557+17_1557+19dup	NP_742053.1:n.1557+17_1557+19dup
NM_172057.2:c.537+17_537+19dup , LRG_288t3:c.537+17_537+19dup	NP_742054.1:n.537+17_537+19dup
XM_011516185.1:c.1257+17_1257+19dup	XP_011514487.1:n.1257+17_1257+19dup
XM_011516186.1:c.1557+17_1557+19dup	XP_011514488.1:n.1557+17_1557+19dup
XM_011516185.2:c.1257+17_1257+19dup	XP_011514487.1:n.1257+17_1257+19dup
XM_011516186.3:c.1557+17_1557+19dup	XP_011514488.1:n.1557+17_1557+19dup
XM_017012195.1:c.1407+17_1407+19dup	XP_016867684.1:n.1407+17_1407+19dup
XM_017012196.1:c.1380+17_1380+19dup	XP_016867685.1:n.1380+17_1380+19dup
NM_000238.4:c.1557+17_1557+19dup MANE Select	NP_000229.1:n.1557+17_1557+19dup
NM_001204798.2:c.537+17_537+19dup	NP_001191727.1:n.537+17_537+19dup
NM_172057.3:c.537+17_537+19dup	NP_742054.1:n.537+17_537+19dup