Canonical Allele Identifier: CA369858175

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2689286
• ClinVar RCV Id: RCV003487951
• MyVariant Identifiers: chr7:g.150648752G>A (hg19) ; chr7:g.150951664G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951664G>A , CM000669.2:g.150951664G>A	GRCh38
NC_000007.13:g.150648752G>A , CM000669.1:g.150648752G>A	GRCh37
NC_000007.12:g.150279685G>A	NCBI36
NG_008916.1:g.31263C>T , LRG_288:g.31263C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1027C>T
ENST00000684241.1:n.2562C>T
ENST00000262186.10:c.1729C>T MANE Select	ENSP00000262186.5:p.Pro577Ser
ENST00000330883.9:c.709C>T	ENSP00000328531.4:p.Pro237Ser
ENST00000262186.9:c.1729C>T	ENSP00000262186.5:p.Pro577Ser
ENST00000330883.8:c.709C>T	ENSP00000328531.4:p.Pro237Ser
ENST00000430723.4:c.1381C>T	ENSP00000387657.4:p.Pro461Ser
ENST00000461280.1:n.1016C>T
ENST00000473610.5:n.1034C>T
ENST00000532957.5:n.1952C>T
NM_000238.3:c.1729C>T , LRG_288t1:c.1729C>T	NP_000229.1:p.Pro577Ser
NM_001204798.1:c.709C>T	NP_001191727.1:p.Pro237Ser
NM_172056.2:c.1729C>T , LRG_288t2:c.1729C>T	NP_742053.1:p.Pro577Ser
NM_172057.2:c.709C>T , LRG_288t3:c.709C>T	NP_742054.1:p.Pro237Ser
XM_011516185.1:c.1429C>T	XP_011514487.1:p.Pro477Ser
XM_011516186.1:c.1729C>T	XP_011514488.1:p.Pro577Ser
XM_011516185.2:c.1429C>T	XP_011514487.1:p.Pro477Ser
XM_011516186.3:c.1729C>T	XP_011514488.1:p.Pro577Ser
XM_017012195.1:c.1579C>T	XP_016867684.1:p.Pro527Ser
XM_017012196.1:c.1552C>T	XP_016867685.1:p.Pro518Ser
NM_000238.4:c.1729C>T MANE Select	NP_000229.1:p.Pro577Ser
NM_001204798.2:c.709C>T	NP_001191727.1:p.Pro237Ser
NM_172057.3:c.709C>T	NP_742054.1:p.Pro237Ser