Canonical Allele Identifier: CA1752428189

Gene: KCNH2

Linked Data

• dbSNP Id: rs1800929110
• gnomAD v4: 7-150947230-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947237_150947238del , CM000669.2:g.150947237_150947238del	GRCh38
NC_000007.13:g.150644325_150644326del , CM000669.1:g.150644325_150644326del	GRCh37
NC_000007.12:g.150275258_150275259del	NCBI36
NG_008916.1:g.35695_35696del , LRG_288:g.35695_35696del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3985+96_3985+97del
ENST00000262186.10:c.3152+96_3152+97del MANE Select	ENSP00000262186.5:n.3152+96_3152+97del
ENST00000330883.9:c.2132+96_2132+97del	ENSP00000328531.4:n.2132+96_2132+97del
ENST00000262186.9:c.3152+96_3152+97del	ENSP00000262186.5:n.3152+96_3152+97del
ENST00000330883.8:c.2132+96_2132+97del	ENSP00000328531.4:n.2132+96_2132+97del
NM_000238.3:c.3152+96_3152+97del , LRG_288t1:c.3152+96_3152+97del	NP_000229.1:n.3152+96_3152+97del
NM_172057.2:c.2132+96_2132+97del , LRG_288t3:c.2132+96_2132+97del	NP_742054.1:n.2132+96_2132+97del
XM_011516185.1:c.2852+96_2852+97del	XP_011514487.1:n.2852+96_2852+97del
XM_011516185.2:c.2852+96_2852+97del	XP_011514487.1:n.2852+96_2852+97del
XM_017012195.1:c.3002+96_3002+97del	XP_016867684.1:n.3002+96_3002+97del
XM_017012196.1:c.2975+96_2975+97del	XP_016867685.1:n.2975+96_2975+97del
NM_000238.4:c.3152+96_3152+97del MANE Select	NP_000229.1:n.3152+96_3152+97del
NM_172057.3:c.2132+96_2132+97del	NP_742054.1:n.2132+96_2132+97del