Canonical Allele Identifier: CA369857865

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1303526
• ClinVar RCV Id: RCV001762984
• dbSNP Id: rs2116959215
• MyVariant Identifiers: chr7:g.150648574G>A (hg19) ; chr7:g.150951486G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951486G>A , CM000669.2:g.150951486G>A	GRCh38
NC_000007.13:g.150648574G>A , CM000669.1:g.150648574G>A	GRCh37
NC_000007.12:g.150279507G>A	NCBI36
NG_008916.1:g.31441C>T , LRG_288:g.31441C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1205C>T
ENST00000683359.1:n.31C>T
ENST00000684241.1:n.2740C>T
ENST00000262186.10:c.1907C>T MANE Select	ENSP00000262186.5:p.Ser636Leu
ENST00000330883.9:c.887C>T	ENSP00000328531.4:p.Ser296Leu
ENST00000262186.9:c.1907C>T	ENSP00000262186.5:p.Ser636Leu
ENST00000330883.8:c.887C>T	ENSP00000328531.4:p.Ser296Leu
ENST00000430723.4:c.1559C>T	ENSP00000387657.4:p.Ser520Leu
ENST00000461280.1:n.1194C>T
ENST00000473610.5:n.1212C>T
ENST00000532957.5:n.2130C>T
NM_000238.3:c.1907C>T , LRG_288t1:c.1907C>T	NP_000229.1:p.Ser636Leu
NM_001204798.1:c.887C>T	NP_001191727.1:p.Ser296Leu
NM_172056.2:c.1907C>T , LRG_288t2:c.1907C>T	NP_742053.1:p.Ser636Leu
NM_172057.2:c.887C>T , LRG_288t3:c.887C>T	NP_742054.1:p.Ser296Leu
XM_011516185.1:c.1607C>T	XP_011514487.1:p.Ser536Leu
XM_011516186.1:c.1907C>T	XP_011514488.1:p.Ser636Leu
XM_011516185.2:c.1607C>T	XP_011514487.1:p.Ser536Leu
XM_011516186.3:c.1907C>T	XP_011514488.1:p.Ser636Leu
XM_017012195.1:c.1757C>T	XP_016867684.1:p.Ser586Leu
XM_017012196.1:c.1730C>T	XP_016867685.1:p.Ser577Leu
NM_000238.4:c.1907C>T MANE Select	NP_000229.1:p.Ser636Leu
NM_001204798.2:c.887C>T	NP_001191727.1:p.Ser296Leu
NM_172057.3:c.887C>T	NP_742054.1:p.Ser296Leu