Canonical Allele Identifier: CA458646581

Gene: KCNH2

Linked Data

• dbSNP Id: rs1232198370
• gnomAD v2: 7-150655433-C-G
• gnomAD v4: 7-150958345-C-G
• MyVariant Identifiers: chr7:g.150655433C>G (hg19) ; chr7:g.150958345C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958345C>G , CM000669.2:g.150958345C>G	GRCh38
NC_000007.13:g.150655433C>G , CM000669.1:g.150655433C>G	GRCh37
NC_000007.12:g.150286366C>G	NCBI36
NG_008916.1:g.24582G>C , LRG_288:g.24582G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1463G>C
ENST00000262186.10:c.630G>C MANE Select	ENSP00000262186.5:p.Leu210=
ENST00000262186.9:c.630G>C	ENSP00000262186.5:p.Leu210=
ENST00000430723.4:c.282G>C	ENSP00000387657.4:p.Leu94=
ENST00000532957.5:n.853G>C
NM_000238.3:c.630G>C , LRG_288t1:c.630G>C	NP_000229.1:p.Leu210=
NM_172056.2:c.630G>C , LRG_288t2:c.630G>C	NP_742053.1:p.Leu210=
XM_011516185.1:c.330G>C	XP_011514487.1:p.Leu110=
XM_011516186.1:c.630G>C	XP_011514488.1:p.Leu210=
XM_011516185.2:c.330G>C	XP_011514487.1:p.Leu110=
XM_011516186.3:c.630G>C	XP_011514488.1:p.Leu210=
XM_017012195.1:c.480G>C	XP_016867684.1:p.Leu160=
XM_017012196.1:c.453G>C	XP_016867685.1:p.Leu151=
NM_000238.4:c.630G>C MANE Select	NP_000229.1:p.Leu210=