Canonical Allele Identifier: CA004315

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67170
• ClinVar RCV Id: RCV000057877
• dbSNP Id: rs199472893
• MyVariant Identifiers: chr7:g.150649832A>G (hg19) ; chr7:g.150952744A>G (hg38)
• PubMed: PMID:12442276 ; PMID:18218237 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952744A>G , CM000669.2:g.150952744A>G	GRCh38
NC_000007.13:g.150649832A>G , CM000669.1:g.150649832A>G	GRCh37
NC_000007.12:g.150280765A>G	NCBI36
NG_008916.1:g.30183T>C , LRG_288:g.30183T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.536T>C
ENST00000684116.1:n.131T>C
ENST00000684241.1:n.2071T>C
ENST00000262186.10:c.1238T>C MANE Select	ENSP00000262186.5:p.Leu413Pro
ENST00000330883.9:c.218T>C	ENSP00000328531.4:p.Leu73Pro
ENST00000262186.9:c.1238T>C	ENSP00000262186.5:p.Leu413Pro
ENST00000330883.8:c.218T>C	ENSP00000328531.4:p.Leu73Pro
ENST00000430723.4:c.890T>C	ENSP00000387657.4:p.Leu297Pro
ENST00000461280.1:n.525T>C
ENST00000473610.5:n.543T>C
ENST00000532957.5:n.1461T>C
NM_000238.3:c.1238T>C , LRG_288t1:c.1238T>C	NP_000229.1:p.Leu413Pro
NM_001204798.1:c.218T>C	NP_001191727.1:p.Leu73Pro
NM_172056.2:c.1238T>C , LRG_288t2:c.1238T>C	NP_742053.1:p.Leu413Pro
NM_172057.2:c.218T>C , LRG_288t3:c.218T>C	NP_742054.1:p.Leu73Pro
XM_011516185.1:c.938T>C	XP_011514487.1:p.Leu313Pro
XM_011516186.1:c.1238T>C	XP_011514488.1:p.Leu413Pro
XM_011516185.2:c.938T>C	XP_011514487.1:p.Leu313Pro
XM_011516186.3:c.1238T>C	XP_011514488.1:p.Leu413Pro
XM_017012195.1:c.1088T>C	XP_016867684.1:p.Leu363Pro
XM_017012196.1:c.1061T>C	XP_016867685.1:p.Leu354Pro
NM_000238.4:c.1238T>C MANE Select	NP_000229.1:p.Leu413Pro
NM_001204798.2:c.218T>C	NP_001191727.1:p.Leu73Pro
NM_172057.3:c.218T>C	NP_742054.1:p.Leu73Pro