Canonical Allele Identifier: CA458645711

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1587889
• ClinVar RCV Id: RCV002095695
• dbSNP Id: rs1411817701
• gnomAD v4: 7-150952737-C-G
• MyVariant Identifiers: chr7:g.150649825C>G (hg19) ; chr7:g.150952737C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952737C>G , CM000669.2:g.150952737C>G	GRCh38
NC_000007.13:g.150649825C>G , CM000669.1:g.150649825C>G	GRCh37
NC_000007.12:g.150280758C>G	NCBI36
NG_008916.1:g.30190G>C , LRG_288:g.30190G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.543G>C
ENST00000684116.1:n.138G>C
ENST00000684241.1:n.2078G>C
ENST00000262186.10:c.1245G>C MANE Select	ENSP00000262186.5:p.Leu415=
ENST00000330883.9:c.225G>C	ENSP00000328531.4:p.Leu75=
ENST00000262186.9:c.1245G>C	ENSP00000262186.5:p.Leu415=
ENST00000330883.8:c.225G>C	ENSP00000328531.4:p.Leu75=
ENST00000430723.4:c.897G>C	ENSP00000387657.4:p.Leu299=
ENST00000461280.1:n.532G>C
ENST00000473610.5:n.550G>C
ENST00000532957.5:n.1468G>C
NM_000238.3:c.1245G>C , LRG_288t1:c.1245G>C	NP_000229.1:p.Leu415=
NM_001204798.1:c.225G>C	NP_001191727.1:p.Leu75=
NM_172056.2:c.1245G>C , LRG_288t2:c.1245G>C	NP_742053.1:p.Leu415=
NM_172057.2:c.225G>C , LRG_288t3:c.225G>C	NP_742054.1:p.Leu75=
XM_011516185.1:c.945G>C	XP_011514487.1:p.Leu315=
XM_011516186.1:c.1245G>C	XP_011514488.1:p.Leu415=
XM_011516185.2:c.945G>C	XP_011514487.1:p.Leu315=
XM_011516186.3:c.1245G>C	XP_011514488.1:p.Leu415=
XM_017012195.1:c.1095G>C	XP_016867684.1:p.Leu365=
XM_017012196.1:c.1068G>C	XP_016867685.1:p.Leu356=
NM_000238.4:c.1245G>C MANE Select	NP_000229.1:p.Leu415=
NM_001204798.2:c.225G>C	NP_001191727.1:p.Leu75=
NM_172057.3:c.225G>C	NP_742054.1:p.Leu75=