Canonical Allele Identifier: CA835220965

Gene: KCNH2

Linked Data

• dbSNP Id: rs1349364631
• gnomAD v3: 7-150947208-GGAA-G
• gnomAD v4: 7-150947208-GGAA-G
• MyVariant Identifiers: chr7:g.150644297_150644299del (hg19) ; chr7:g.150947209_150947211del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947213_150947215del , CM000669.2:g.150947213_150947215del	GRCh38
NC_000007.13:g.150644301_150644303del , CM000669.1:g.150644301_150644303del	GRCh37
NC_000007.12:g.150275234_150275236del	NCBI36
NG_008916.1:g.35716_35718del , LRG_288:g.35716_35718del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3985+117_3985+119del
ENST00000262186.10:c.3152+117_3152+119del MANE Select	ENSP00000262186.5:n.3152+117_3152+119del
ENST00000330883.9:c.2132+117_2132+119del	ENSP00000328531.4:n.2132+117_2132+119del
ENST00000262186.9:c.3152+117_3152+119del	ENSP00000262186.5:n.3152+117_3152+119del
ENST00000330883.8:c.2132+117_2132+119del	ENSP00000328531.4:n.2132+117_2132+119del
NM_000238.3:c.3152+117_3152+119del , LRG_288t1:c.3152+117_3152+119del	NP_000229.1:n.3152+117_3152+119del
NM_172057.2:c.2132+117_2132+119del , LRG_288t3:c.2132+117_2132+119del	NP_742054.1:n.2132+117_2132+119del
XM_011516185.1:c.2852+117_2852+119del	XP_011514487.1:n.2852+117_2852+119del
XM_011516185.2:c.2852+117_2852+119del	XP_011514487.1:n.2852+117_2852+119del
XM_017012195.1:c.3002+117_3002+119del	XP_016867684.1:n.3002+117_3002+119del
XM_017012196.1:c.2975+117_2975+119del	XP_016867685.1:n.2975+117_2975+119del
NM_000238.4:c.3152+117_3152+119del MANE Select	NP_000229.1:n.3152+117_3152+119del
NM_172057.3:c.2132+117_2132+119del	NP_742054.1:n.2132+117_2132+119del