Canonical Allele Identifier: CA10628484

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 359315
• ClinVar RCV Id: RCV000357284
• dbSNP Id: rs864622366
• gnomAD v4: 7-150958122-C-A
• MyVariant Identifiers: chr7:g.150655210C>A (hg19) ; chr7:g.150958122C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958122C>A , CM000669.2:g.150958122C>A	GRCh38
NC_000007.13:g.150655210C>A , CM000669.1:g.150655210C>A	GRCh37
NC_000007.12:g.150286143C>A	NCBI36
NG_008916.1:g.24805G>T , LRG_288:g.24805G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1686G>T
ENST00000262186.10:c.853G>T MANE Select	ENSP00000262186.5:p.Ala285Ser
ENST00000262186.9:c.853G>T	ENSP00000262186.5:p.Ala285Ser
ENST00000430723.4:c.505G>T	ENSP00000387657.4:p.Ala169Ser
ENST00000532957.5:n.1076G>T
NM_000238.3:c.853G>T , LRG_288t1:c.853G>T	NP_000229.1:p.Ala285Ser
NM_172056.2:c.853G>T , LRG_288t2:c.853G>T	NP_742053.1:p.Ala285Ser
XM_011516185.1:c.553G>T	XP_011514487.1:p.Ala185Ser
XM_011516186.1:c.853G>T	XP_011514488.1:p.Ala285Ser
XM_011516185.2:c.553G>T	XP_011514487.1:p.Ala185Ser
XM_011516186.3:c.853G>T	XP_011514488.1:p.Ala285Ser
XM_017012195.1:c.703G>T	XP_016867684.1:p.Ala235Ser
XM_017012196.1:c.676G>T	XP_016867685.1:p.Ala226Ser
NM_000238.4:c.853G>T MANE Select	NP_000229.1:p.Ala285Ser