Canonical Allele Identifier: CA005893

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67321
• ClinVar RCV Id: RCV000058040 ; RCV000181824 ; RCV000621397
• dbSNP Id: rs199473527
• COSMIC: COSM3636214 ; COSM3636215 ; COSM4893611
• MyVariant Identifiers: chr7:g.150648587G>A (hg19) ; chr7:g.150951499G>A (hg38)
• PubMed: PMID:10973849 ; PMID:22581653 ; PMID:22727609 ; PMID:25417810

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951499G>A , CM000669.2:g.150951499G>A	GRCh38
NC_000007.13:g.150648587G>A , CM000669.1:g.150648587G>A	GRCh37
NC_000007.12:g.150279520G>A	NCBI36
NG_008916.1:g.31428C>T , LRG_288:g.31428C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1192C>T
ENST00000683359.1:n.18C>T
ENST00000684241.1:n.2727C>T
ENST00000262186.10:c.1894C>T MANE Select	ENSP00000262186.5:p.Pro632Ser
ENST00000330883.9:c.874C>T	ENSP00000328531.4:p.Pro292Ser
ENST00000262186.9:c.1894C>T	ENSP00000262186.5:p.Pro632Ser
ENST00000330883.8:c.874C>T	ENSP00000328531.4:p.Pro292Ser
ENST00000430723.4:c.1546C>T	ENSP00000387657.4:p.Pro516Ser
ENST00000461280.1:n.1181C>T
ENST00000473610.5:n.1199C>T
ENST00000532957.5:n.2117C>T
NM_000238.3:c.1894C>T , LRG_288t1:c.1894C>T	NP_000229.1:p.Pro632Ser
NM_001204798.1:c.874C>T	NP_001191727.1:p.Pro292Ser
NM_172056.2:c.1894C>T , LRG_288t2:c.1894C>T	NP_742053.1:p.Pro632Ser
NM_172057.2:c.874C>T , LRG_288t3:c.874C>T	NP_742054.1:p.Pro292Ser
XM_011516185.1:c.1594C>T	XP_011514487.1:p.Pro532Ser
XM_011516186.1:c.1894C>T	XP_011514488.1:p.Pro632Ser
XM_011516185.2:c.1594C>T	XP_011514487.1:p.Pro532Ser
XM_011516186.3:c.1894C>T	XP_011514488.1:p.Pro632Ser
XM_017012195.1:c.1744C>T	XP_016867684.1:p.Pro582Ser
XM_017012196.1:c.1717C>T	XP_016867685.1:p.Pro573Ser
NM_000238.4:c.1894C>T MANE Select	NP_000229.1:p.Pro632Ser
NM_001204798.2:c.874C>T	NP_001191727.1:p.Pro292Ser
NM_172057.3:c.874C>T	NP_742054.1:p.Pro292Ser