Canonical Allele Identifier: CA036219

Gene: KCNH2

Linked Data

• dbSNP Id: rs766869051
• ExAC: 7:150644580 G / A
• gnomAD v2: 7-150644580-G-A
• gnomAD v4: 7-150947492-G-A
• MyVariant Identifiers: chr7:g.150644580G>A (hg19) ; chr7:g.150947492G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947492G>A , CM000669.2:g.150947492G>A	GRCh38
NC_000007.13:g.150644580G>A , CM000669.1:g.150644580G>A	GRCh37
NC_000007.12:g.150275513G>A	NCBI36
NG_008916.1:g.35435C>T , LRG_288:g.35435C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3821C>T
ENST00000262186.10:c.2988C>T MANE Select	ENSP00000262186.5:p.Asn996=
ENST00000330883.9:c.1968C>T	ENSP00000328531.4:p.Asn656=
ENST00000262186.9:c.2988C>T	ENSP00000262186.5:p.Asn996=
ENST00000330883.8:c.1968C>T	ENSP00000328531.4:p.Asn656=
NM_000238.3:c.2988C>T , LRG_288t1:c.2988C>T	NP_000229.1:p.Asn996=
NM_172057.2:c.1968C>T , LRG_288t3:c.1968C>T	NP_742054.1:p.Asn656=
XM_011516185.1:c.2688C>T	XP_011514487.1:p.Asn896=
XM_011516186.1:c.*68C>T	XP_011514488.1:n.*68C>T
XM_011516185.2:c.2688C>T	XP_011514487.1:p.Asn896=
XM_011516186.3:c.*68C>T	XP_011514488.1:n.*68C>T
XM_017012195.1:c.2838C>T	XP_016867684.1:p.Asn946=
XM_017012196.1:c.2811C>T	XP_016867685.1:p.Asn937=
NM_000238.4:c.2988C>T MANE Select	NP_000229.1:p.Asn996=
NM_172057.3:c.1968C>T	NP_742054.1:p.Asn656=