Canonical Allele Identifier: CA369862691

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 648410
• ClinVar RCV Id: RCV000803129
• dbSNP Id: rs863224337
• gnomAD v2: 7-150655334-G-C
• gnomAD v4: 7-150958246-G-C
• MyVariant Identifiers: chr7:g.150655334G>C (hg19) ; chr7:g.150958246G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958246G>C , CM000669.2:g.150958246G>C	GRCh38
NC_000007.13:g.150655334G>C , CM000669.1:g.150655334G>C	GRCh37
NC_000007.12:g.150286267G>C	NCBI36
NG_008916.1:g.24681C>G , LRG_288:g.24681C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1562C>G
ENST00000262186.10:c.729C>G MANE Select	ENSP00000262186.5:p.Ser243Arg
ENST00000262186.9:c.729C>G	ENSP00000262186.5:p.Ser243Arg
ENST00000430723.4:c.381C>G	ENSP00000387657.4:p.Ser127Arg
ENST00000532957.5:n.952C>G
NM_000238.3:c.729C>G , LRG_288t1:c.729C>G	NP_000229.1:p.Ser243Arg
NM_172056.2:c.729C>G , LRG_288t2:c.729C>G	NP_742053.1:p.Ser243Arg
XM_011516185.1:c.429C>G	XP_011514487.1:p.Ser143Arg
XM_011516186.1:c.729C>G	XP_011514488.1:p.Ser243Arg
XM_011516185.2:c.429C>G	XP_011514487.1:p.Ser143Arg
XM_011516186.3:c.729C>G	XP_011514488.1:p.Ser243Arg
XM_017012195.1:c.579C>G	XP_016867684.1:p.Ser193Arg
XM_017012196.1:c.552C>G	XP_016867685.1:p.Ser184Arg
NM_000238.4:c.729C>G MANE Select	NP_000229.1:p.Ser243Arg