Canonical Allele Identifier: CA369865479

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 643651
• ClinVar RCV Id: RCV000797407
• dbSNP Id: rs1554430909
• gnomAD v4: 7-150974771-C-A
• MyVariant Identifiers: chr7:g.150671859C>A (hg19) ; chr7:g.150974771C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974771C>A , CM000669.2:g.150974771C>A	GRCh38
NC_000007.13:g.150671859C>A , CM000669.1:g.150671859C>A	GRCh37
NC_000007.12:g.150302792C>A	NCBI36
NG_008916.1:g.8156G>T , LRG_288:g.8156G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.247G>T MANE Select	ENSP00000262186.5:p.Ala83Ser
ENST00000262186.9:c.247G>T	ENSP00000262186.5:p.Ala83Ser
ENST00000430723.4:c.70G>T	ENSP00000387657.4:p.Ala24Ser
ENST00000532957.5:n.470G>T
NM_000238.3:c.247G>T , LRG_288t1:c.247G>T	NP_000229.1:p.Ala83Ser
NM_172056.2:c.247G>T , LRG_288t2:c.247G>T	NP_742053.1:p.Ala83Ser
XM_011516186.1:c.247G>T	XP_011514488.1:p.Ala83Ser
XM_011516186.3:c.247G>T	XP_011514488.1:p.Ala83Ser
XM_017012196.1:c.70G>T	XP_016867685.1:p.Ala24Ser
NM_000238.4:c.247G>T MANE Select	NP_000229.1:p.Ala83Ser