Canonical Allele Identifier: CA458872097

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1589643
• ClinVar RCV Id: RCV002101130 ; RCV002391236
• dbSNP Id: rs2117004364
• gnomAD v4: 7-150958228-T-C
• MyVariant Identifiers: chr7:g.150655316T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958228T>C , CM000669.2:g.150958228T>C	GRCh38
NC_000007.13:g.150655316T>C , CM000669.1:g.150655316T>C	GRCh37
NC_000007.12:g.150286249T>C	NCBI36
NG_008916.1:g.24699A>G , LRG_288:g.24699A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1580A>G
ENST00000262186.10:c.747A>G MANE Select	ENSP00000262186.5:p.Pro249=
ENST00000262186.9:c.747A>G	ENSP00000262186.5:p.Pro249=
ENST00000430723.4:c.399A>G	ENSP00000387657.4:p.Pro133=
ENST00000532957.5:n.970A>G
NM_000238.3:c.747A>G , LRG_288t1:c.747A>G	NP_000229.1:p.Pro249=
NM_172056.2:c.747A>G , LRG_288t2:c.747A>G	NP_742053.1:p.Pro249=
XM_011516185.1:c.447A>G	XP_011514487.1:p.Pro149=
XM_011516186.1:c.747A>G	XP_011514488.1:p.Pro249=
XM_011516185.2:c.447A>G	XP_011514487.1:p.Pro149=
XM_011516186.3:c.747A>G	XP_011514488.1:p.Pro249=
XM_017012195.1:c.597A>G	XP_016867684.1:p.Pro199=
XM_017012196.1:c.570A>G	XP_016867685.1:p.Pro190=
NM_000238.4:c.747A>G MANE Select	NP_000229.1:p.Pro249=