Canonical Allele Identifier: CA1379970

Gene: KCNH1

Linked Data

• ClinVar Variation Id: 1721052
• ClinVar RCV Id: RCV002294772
• dbSNP Id: rs771008535
• ExAC: 1:211192417 T / C
• COSMIC: COSM4027851
• MyVariant Identifiers: chr1:g.211192417T>C (hg19) ; chr1:g.211019075T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211019075T>C , CM000663.2:g.211019075T>C	GRCh38
NC_000001.10:g.211192417T>C , CM000663.1:g.211192417T>C	GRCh37
NC_000001.9:g.209259040T>C	NCBI36
NG_029777.1:g.120041A>G
NG_029777.2:g.120041A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000271751.10:c.740A>G MANE Select	ENSP00000271751.4:p.Asn247Ser
ENST00000367007.5:c.740A>G	ENSP00000355974.5:p.Asn247Ser
ENST00000638357.1:c.154A>G
ENST00000638498.1:c.740A>G	ENSP00000490983.1:p.Asn247Ser
ENST00000638960.1:c.740A>G	ENSP00000492302.1:p.Asn247Ser
ENST00000638983.1:c.740A>G	ENSP00000492641.1:p.Asn247Ser
ENST00000639385.1:n.116A>G
ENST00000639602.1:c.611A>G	ENSP00000492303.1:p.Asn204Ser
ENST00000639754.1:n.943A>G
ENST00000639952.1:c.740A>G	ENSP00000492697.1:p.Asn247Ser
ENST00000640044.1:c.310+84421A>G	ENSP00000491434.1:n.310+84421A>G
ENST00000640243.1:c.740A>G	ENSP00000492803.1:p.Asn247Ser
ENST00000640522.1:c.740A>G	ENSP00000491019.1:p.Asn247Ser
ENST00000640528.1:c.740A>G	ENSP00000491725.1:p.Asn247Ser
ENST00000640566.1:c.310+84421A>G	ENSP00000491302.1:n.310+84421A>G
ENST00000640710.1:c.740A>G	ENSP00000492513.1:p.Asn247Ser
ENST00000640890.1:n.842A>G
ENST00000271751.8:c.740A>G	ENSP00000271751.4:p.Asn247Ser
ENST00000367007.4:c.740A>G	ENSP00000355974.4:p.Asn247Ser
NM_002238.3:c.740A>G	NP_002229.1:p.Asn247Ser
NM_172362.2:c.740A>G	NP_758872.1:p.Asn247Ser
NM_172362.3:c.740A>G MANE Select	NP_758872.1:p.Asn247Ser
NM_002238.4:c.740A>G	NP_002229.1:p.Asn247Ser