Canonical Allele Identifier: CA369863677

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 3070963
• ClinVar RCV Id: RCV004014465
• gnomAD v4: 7-150959617-G-A
• COSMIC: COSM3923131 ; COSM3923132
• MyVariant Identifiers: chr7:g.150656705G>A (hg19) ; chr7:g.150959617G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959617G>A , CM000669.2:g.150959617G>A	GRCh38
NC_000007.13:g.150656705G>A , CM000669.1:g.150656705G>A	GRCh37
NC_000007.12:g.150287638G>A	NCBI36
NG_008916.1:g.23310C>T , LRG_288:g.23310C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1260C>T
ENST00000262186.10:c.427C>T MANE Select	ENSP00000262186.5:p.His143Tyr
ENST00000262186.9:c.427C>T	ENSP00000262186.5:p.His143Tyr
ENST00000430723.4:c.234+16C>T	ENSP00000387657.4:n.234+16C>T
ENST00000532957.5:n.650C>T
NM_000238.3:c.427C>T , LRG_288t1:c.427C>T	NP_000229.1:p.His143Tyr
NM_172056.2:c.427C>T , LRG_288t2:c.427C>T	NP_742053.1:p.His143Tyr
XM_011516185.1:c.127C>T	XP_011514487.1:p.His43Tyr
XM_011516186.1:c.427C>T	XP_011514488.1:p.His143Tyr
XM_011516185.2:c.127C>T	XP_011514487.1:p.His43Tyr
XM_011516186.3:c.427C>T	XP_011514488.1:p.His143Tyr
XM_017012195.1:c.277C>T	XP_016867684.1:p.His93Tyr
XM_017012196.1:c.250C>T	XP_016867685.1:p.His84Tyr
NM_000238.4:c.427C>T MANE Select	NP_000229.1:p.His143Tyr