Canonical Allele Identifier: CA005905

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67323
• ClinVar RCV Id: RCV000058042 ; RCV000181825 ; RCV000678919 ; RCV000617489 ; RCV000799027 ; RCV004549483
• dbSNP Id: rs199472961
• MyVariant Identifiers: chr7:g.150648583T>C (hg19) ; chr7:g.150951495T>C (hg38)
• PubMed: PMID:9544837 ; PMID:11222472 ; PMID:12877697 ; PMID:15840476 ; PMID:15851119 ; PMID:16155735 ; PMID:16842670 ; PMID:17088455 ; PMID:18441445 ; PMID:18593567 ; PMID:18752142 ; PMID:19841300 ; PMID:20541041 ; PMID:22581653 ; PMID:23158531 ; PMID:24363352 ; PMID:24606995 ; PMID:25417810 ; PMID:26669661

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951495T>C , CM000669.2:g.150951495T>C	GRCh38
NC_000007.13:g.150648583T>C , CM000669.1:g.150648583T>C	GRCh37
NC_000007.12:g.150279516T>C	NCBI36
NG_008916.1:g.31432A>G , LRG_288:g.31432A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1196A>G
ENST00000683359.1:n.22A>G
ENST00000684241.1:n.2731A>G
ENST00000262186.10:c.1898A>G MANE Select	ENSP00000262186.5:p.Asn633Ser
ENST00000330883.9:c.878A>G	ENSP00000328531.4:p.Asn293Ser
ENST00000262186.9:c.1898A>G	ENSP00000262186.5:p.Asn633Ser
ENST00000330883.8:c.878A>G	ENSP00000328531.4:p.Asn293Ser
ENST00000430723.4:c.1550A>G	ENSP00000387657.4:p.Asn517Ser
ENST00000461280.1:n.1185A>G
ENST00000473610.5:n.1203A>G
ENST00000532957.5:n.2121A>G
NM_000238.3:c.1898A>G , LRG_288t1:c.1898A>G	NP_000229.1:p.Asn633Ser
NM_001204798.1:c.878A>G	NP_001191727.1:p.Asn293Ser
NM_172056.2:c.1898A>G , LRG_288t2:c.1898A>G	NP_742053.1:p.Asn633Ser
NM_172057.2:c.878A>G , LRG_288t3:c.878A>G	NP_742054.1:p.Asn293Ser
XM_011516185.1:c.1598A>G	XP_011514487.1:p.Asn533Ser
XM_011516186.1:c.1898A>G	XP_011514488.1:p.Asn633Ser
XM_011516185.2:c.1598A>G	XP_011514487.1:p.Asn533Ser
XM_011516186.3:c.1898A>G	XP_011514488.1:p.Asn633Ser
XM_017012195.1:c.1748A>G	XP_016867684.1:p.Asn583Ser
XM_017012196.1:c.1721A>G	XP_016867685.1:p.Asn574Ser
NM_000238.4:c.1898A>G MANE Select	NP_000229.1:p.Asn633Ser
NM_001204798.2:c.878A>G	NP_001191727.1:p.Asn293Ser
NM_172057.3:c.878A>G	NP_742054.1:p.Asn293Ser