Canonical Allele Identifier: CA004400

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200335
• ClinVar RCV Id: RCV000181787 ; RCV003996707
• dbSNP Id: rs794728368
• MyVariant Identifiers: chr7:g.150649788A>G (hg19) ; chr7:g.150952700A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952700A>G , CM000669.2:g.150952700A>G	GRCh38
NC_000007.13:g.150649788A>G , CM000669.1:g.150649788A>G	GRCh37
NC_000007.12:g.150280721A>G	NCBI36
NG_008916.1:g.30227T>C , LRG_288:g.30227T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.580T>C
ENST00000684116.1:n.175T>C
ENST00000684241.1:n.2115T>C
ENST00000262186.10:c.1282T>C MANE Select	ENSP00000262186.5:p.Ser428Pro
ENST00000330883.9:c.262T>C	ENSP00000328531.4:p.Ser88Pro
ENST00000262186.9:c.1282T>C	ENSP00000262186.5:p.Ser428Pro
ENST00000330883.8:c.262T>C	ENSP00000328531.4:p.Ser88Pro
ENST00000430723.4:c.934T>C	ENSP00000387657.4:p.Ser312Pro
ENST00000461280.1:n.569T>C
ENST00000473610.5:n.587T>C
ENST00000532957.5:n.1505T>C
NM_000238.3:c.1282T>C , LRG_288t1:c.1282T>C	NP_000229.1:p.Ser428Pro
NM_001204798.1:c.262T>C	NP_001191727.1:p.Ser88Pro
NM_172056.2:c.1282T>C , LRG_288t2:c.1282T>C	NP_742053.1:p.Ser428Pro
NM_172057.2:c.262T>C , LRG_288t3:c.262T>C	NP_742054.1:p.Ser88Pro
XM_011516185.1:c.982T>C	XP_011514487.1:p.Ser328Pro
XM_011516186.1:c.1282T>C	XP_011514488.1:p.Ser428Pro
XM_011516185.2:c.982T>C	XP_011514487.1:p.Ser328Pro
XM_011516186.3:c.1282T>C	XP_011514488.1:p.Ser428Pro
XM_017012195.1:c.1132T>C	XP_016867684.1:p.Ser378Pro
XM_017012196.1:c.1105T>C	XP_016867685.1:p.Ser369Pro
NM_000238.4:c.1282T>C MANE Select	NP_000229.1:p.Ser428Pro
NM_001204798.2:c.262T>C	NP_001191727.1:p.Ser88Pro
NM_172057.3:c.262T>C	NP_742054.1:p.Ser88Pro