Canonical Allele Identifier: CA369863689

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1045443
• ClinVar RCV Id: RCV001349853
• dbSNP Id: rs1563172835
• gnomAD v3: 7-150959623-G-A
• gnomAD v4: 7-150959623-G-A
• MyVariant Identifiers: chr7:g.150656711G>A (hg19) ; chr7:g.150959623G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959623G>A , CM000669.2:g.150959623G>A	GRCh38
NC_000007.13:g.150656711G>A , CM000669.1:g.150656711G>A	GRCh37
NC_000007.12:g.150287644G>A	NCBI36
NG_008916.1:g.23304C>T , LRG_288:g.23304C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1254C>T
ENST00000262186.10:c.421C>T MANE Select	ENSP00000262186.5:p.Pro141Ser
ENST00000262186.9:c.421C>T	ENSP00000262186.5:p.Pro141Ser
ENST00000430723.4:c.234+10C>T	ENSP00000387657.4:n.234+10C>T
ENST00000532957.5:n.644C>T
NM_000238.3:c.421C>T , LRG_288t1:c.421C>T	NP_000229.1:p.Pro141Ser
NM_172056.2:c.421C>T , LRG_288t2:c.421C>T	NP_742053.1:p.Pro141Ser
XM_011516185.1:c.121C>T	XP_011514487.1:p.Pro41Ser
XM_011516186.1:c.421C>T	XP_011514488.1:p.Pro141Ser
XM_011516185.2:c.121C>T	XP_011514487.1:p.Pro41Ser
XM_011516186.3:c.421C>T	XP_011514488.1:p.Pro141Ser
XM_017012195.1:c.271C>T	XP_016867684.1:p.Pro91Ser
XM_017012196.1:c.244C>T	XP_016867685.1:p.Pro82Ser
NM_000238.4:c.421C>T MANE Select	NP_000229.1:p.Pro141Ser