Canonical Allele Identifier: CA344874595

Gene: KCNH1

Linked Data

• MyVariant Identifiers: chr1:g.210977500A>T (hg19) ; chr1:g.210804158A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210804158A>T , CM000663.2:g.210804158A>T	GRCh38
NC_000001.10:g.210977500A>T , CM000663.1:g.210977500A>T	GRCh37
NC_000001.9:g.209044123A>T	NCBI36
NG_029777.1:g.334958T>A
NG_029777.2:g.334958T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1471T>A MANE Select	ENSP00000271751.4:p.Tyr491Asn
ENST00000367007.5:c.1390T>A	ENSP00000355974.5:p.Tyr464Asn
ENST00000638357.1:c.804T>A
ENST00000638498.1:c.1471T>A	ENSP00000490983.1:p.Tyr491Asn
ENST00000638960.1:c.1390T>A	ENSP00000492302.1:p.Tyr464Asn
ENST00000639952.1:c.1390T>A	ENSP00000492697.1:p.Tyr464Asn
ENST00000640044.1:c.319T>A	ENSP00000491434.1:p.Tyr107Asn
ENST00000640243.1:c.960T>A	ENSP00000492803.1:p.Ser320=
ENST00000640522.1:c.1041T>A	ENSP00000491019.1:p.Ser347=
ENST00000640528.1:c.1390T>A	ENSP00000491725.1:p.Tyr464Asn
ENST00000640566.1:c.311-28614T>A	ENSP00000491302.1:n.311-28614T>A
ENST00000640710.1:c.1390T>A	ENSP00000492513.1:p.Tyr464Asn
ENST00000271751.8:c.1471T>A	ENSP00000271751.4:p.Tyr491Asn
ENST00000367007.4:c.1390T>A	ENSP00000355974.4:p.Tyr464Asn
NM_002238.3:c.1390T>A	NP_002229.1:p.Tyr464Asn
NM_172362.2:c.1471T>A	NP_758872.1:p.Tyr491Asn
XM_011509514.1:c.295T>A	XP_011507816.1:p.Tyr99Asn
XM_017001246.1:c.295T>A	XP_016856735.1:p.Tyr99Asn
NM_172362.3:c.1471T>A MANE Select	NP_758872.1:p.Tyr491Asn
NM_002238.4:c.1390T>A	NP_002229.1:p.Tyr464Asn