Canonical Allele Identifier: CA458872203

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1668834
• ClinVar RCV Id: RCV002194248
• dbSNP Id: rs774222426
• gnomAD v4: 7-150958264-G-C
• MyVariant Identifiers: chr7:g.150655352G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958264G>C , CM000669.2:g.150958264G>C	GRCh38
NC_000007.13:g.150655352G>C , CM000669.1:g.150655352G>C	GRCh37
NC_000007.12:g.150286285G>C	NCBI36
NG_008916.1:g.24663C>G , LRG_288:g.24663C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1544C>G
ENST00000262186.10:c.711C>G MANE Select	ENSP00000262186.5:p.Pro237=
ENST00000262186.9:c.711C>G	ENSP00000262186.5:p.Pro237=
ENST00000430723.4:c.363C>G	ENSP00000387657.4:p.Pro121=
ENST00000532957.5:n.934C>G
NM_000238.3:c.711C>G , LRG_288t1:c.711C>G	NP_000229.1:p.Pro237=
NM_172056.2:c.711C>G , LRG_288t2:c.711C>G	NP_742053.1:p.Pro237=
XM_011516185.1:c.411C>G	XP_011514487.1:p.Pro137=
XM_011516186.1:c.711C>G	XP_011514488.1:p.Pro237=
XM_011516185.2:c.411C>G	XP_011514487.1:p.Pro137=
XM_011516186.3:c.711C>G	XP_011514488.1:p.Pro237=
XM_017012195.1:c.561C>G	XP_016867684.1:p.Pro187=
XM_017012196.1:c.534C>G	XP_016867685.1:p.Pro178=
NM_000238.4:c.711C>G MANE Select	NP_000229.1:p.Pro237=