Canonical Allele Identifier: CA004519

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200222
• ClinVar RCV Id: RCV001516764 ; RCV001842801
• dbSNP Id: rs763446458
• ExAC: 7:150649717 C / T
• gnomAD v2: 7-150649717-C-T
• gnomAD v3: 7-150952629-C-T
• gnomAD v4: 7-150952629-C-T
• COSMIC: COSM4981565 ; COSM4981566 ; COSM4981567
• MyVariant Identifiers: chr7:g.150649717C>T (hg19) ; chr7:g.150952629C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952629C>T , CM000669.2:g.150952629C>T	GRCh38
NC_000007.13:g.150649717C>T , CM000669.1:g.150649717C>T	GRCh37
NC_000007.12:g.150280650C>T	NCBI36
NG_008916.1:g.30298G>A , LRG_288:g.30298G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.651G>A
ENST00000684116.1:n.246G>A
ENST00000684241.1:n.2186G>A
ENST00000262186.10:c.1353G>A MANE Select	ENSP00000262186.5:p.Pro451=
ENST00000330883.9:c.333G>A	ENSP00000328531.4:p.Pro111=
ENST00000262186.9:c.1353G>A	ENSP00000262186.5:p.Pro451=
ENST00000330883.8:c.333G>A	ENSP00000328531.4:p.Pro111=
ENST00000430723.4:c.1005G>A	ENSP00000387657.4:p.Pro335=
ENST00000461280.1:n.640G>A
ENST00000473610.5:n.658G>A
ENST00000532957.5:n.1576G>A
NM_000238.3:c.1353G>A , LRG_288t1:c.1353G>A	NP_000229.1:p.Pro451=
NM_001204798.1:c.333G>A	NP_001191727.1:p.Pro111=
NM_172056.2:c.1353G>A , LRG_288t2:c.1353G>A	NP_742053.1:p.Pro451=
NM_172057.2:c.333G>A , LRG_288t3:c.333G>A	NP_742054.1:p.Pro111=
XM_011516185.1:c.1053G>A	XP_011514487.1:p.Pro351=
XM_011516186.1:c.1353G>A	XP_011514488.1:p.Pro451=
XM_011516185.2:c.1053G>A	XP_011514487.1:p.Pro351=
XM_011516186.3:c.1353G>A	XP_011514488.1:p.Pro451=
XM_017012195.1:c.1203G>A	XP_016867684.1:p.Pro401=
XM_017012196.1:c.1176G>A	XP_016867685.1:p.Pro392=
NM_000238.4:c.1353G>A MANE Select	NP_000229.1:p.Pro451=
NM_001204798.2:c.333G>A	NP_001191727.1:p.Pro111=
NM_172057.3:c.333G>A	NP_742054.1:p.Pro111=