Canonical Allele Identifier: CA2685600485

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150946840-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150946840_150946841insAA , CM000669.2:g.150946840_150946841insAA	GRCh38
NC_000007.13:g.150643928_150643929insAA , CM000669.1:g.150643928_150643929insAA	GRCh37
NC_000007.12:g.150274861_150274862insAA	NCBI36
NG_008916.1:g.36086_36087insTT , LRG_288:g.36086_36087insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.4163+36_4163+37insTT
ENST00000262186.10:c.3330+36_3330+37insTT MANE Select	ENSP00000262186.5:n.3330+36_3330+37insTT
ENST00000330883.9:c.2310+36_2310+37insTT	ENSP00000328531.4:n.2310+36_2310+37insTT
ENST00000262186.9:c.3330+36_3330+37insTT	ENSP00000262186.5:n.3330+36_3330+37insTT
ENST00000330883.8:c.2310+36_2310+37insTT	ENSP00000328531.4:n.2310+36_2310+37insTT
NM_000238.3:c.3330+36_3330+37insTT , LRG_288t1:c.3330+36_3330+37insTT	NP_000229.1:n.3330+36_3330+37insTT
NM_172057.2:c.2310+36_2310+37insTT , LRG_288t3:c.2310+36_2310+37insTT	NP_742054.1:n.2310+36_2310+37insTT
XM_011516185.1:c.3030+36_3030+37insTT	XP_011514487.1:n.3030+36_3030+37insTT
XM_011516185.2:c.3030+36_3030+37insTT	XP_011514487.1:n.3030+36_3030+37insTT
XM_017012195.1:c.3180+36_3180+37insTT	XP_016867684.1:n.3180+36_3180+37insTT
XM_017012196.1:c.3153+36_3153+37insTT	XP_016867685.1:n.3153+36_3153+37insTT
NM_000238.4:c.3330+36_3330+37insTT MANE Select	NP_000229.1:n.3330+36_3330+37insTT
NM_172057.3:c.2310+36_2310+37insTT	NP_742054.1:n.2310+36_2310+37insTT