Canonical Allele Identifier: CA2685602249

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947971-GGACTGGGCAGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947972_150947983del , CM000669.2:g.150947972_150947983del	GRCh38
NC_000007.13:g.150645060_150645071del , CM000669.1:g.150645060_150645071del	GRCh37
NC_000007.12:g.150275993_150276004del	NCBI36
NG_008916.1:g.34944_34955del , LRG_288:g.34944_34955del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3526-105_3526-94del
ENST00000262186.10:c.2693-105_2693-94del MANE Select	ENSP00000262186.5:n.2693-105_2693-94del
ENST00000330883.9:c.1673-105_1673-94del	ENSP00000328531.4:n.1673-105_1673-94del
ENST00000262186.9:c.2693-105_2693-94del	ENSP00000262186.5:n.2693-105_2693-94del
ENST00000330883.8:c.1673-105_1673-94del	ENSP00000328531.4:n.1673-105_1673-94del
NM_000238.3:c.2693-105_2693-94del , LRG_288t1:c.2693-105_2693-94del	NP_000229.1:n.2693-105_2693-94del
NM_172057.2:c.1673-105_1673-94del , LRG_288t3:c.1673-105_1673-94del	NP_742054.1:n.1673-105_1673-94del
XM_011516185.1:c.2393-105_2393-94del	XP_011514487.1:n.2393-105_2393-94del
XM_011516186.1:c.2693-292_2693-281del	XP_011514488.1:n.2693-292_2693-281del
XM_011516185.2:c.2393-105_2393-94del	XP_011514487.1:n.2393-105_2393-94del
XM_011516186.3:c.2693-292_2693-281del	XP_011514488.1:n.2693-292_2693-281del
XM_017012195.1:c.2543-105_2543-94del	XP_016867684.1:n.2543-105_2543-94del
XM_017012196.1:c.2516-105_2516-94del	XP_016867685.1:n.2516-105_2516-94del
NM_000238.4:c.2693-105_2693-94del MANE Select	NP_000229.1:n.2693-105_2693-94del
NM_172057.3:c.1673-105_1673-94del	NP_742054.1:n.1673-105_1673-94del