Canonical Allele Identifier: CA458646750

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1118930
• ClinVar RCV Id: RCV001448194
• dbSNP Id: rs2117006470
• gnomAD v4: 7-150958408-G-C
• MyVariant Identifiers: chr7:g.150655496G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958408G>C , CM000669.2:g.150958408G>C	GRCh38
NC_000007.13:g.150655496G>C , CM000669.1:g.150655496G>C	GRCh37
NC_000007.12:g.150286429G>C	NCBI36
NG_008916.1:g.24519C>G , LRG_288:g.24519C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1400C>G
ENST00000262186.10:c.567C>G MANE Select	ENSP00000262186.5:p.Gly189=
ENST00000262186.9:c.567C>G	ENSP00000262186.5:p.Gly189=
ENST00000430723.4:c.235-16C>G	ENSP00000387657.4:n.235-16C>G
ENST00000532957.5:n.790C>G
NM_000238.3:c.567C>G , LRG_288t1:c.567C>G	NP_000229.1:p.Gly189=
NM_172056.2:c.567C>G , LRG_288t2:c.567C>G	NP_742053.1:p.Gly189=
XM_011516185.1:c.267C>G	XP_011514487.1:p.Gly89=
XM_011516186.1:c.567C>G	XP_011514488.1:p.Gly189=
XM_011516185.2:c.267C>G	XP_011514487.1:p.Gly89=
XM_011516186.3:c.567C>G	XP_011514488.1:p.Gly189=
XM_017012195.1:c.417C>G	XP_016867684.1:p.Gly139=
XM_017012196.1:c.390C>G	XP_016867685.1:p.Gly130=
NM_000238.4:c.567C>G MANE Select	NP_000229.1:p.Gly189=