Canonical Allele Identifier: CA344874589

Gene: KCNH1

Linked Data

• MyVariant Identifiers: chr1:g.210977498A>T (hg19) ; chr1:g.210804156A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210804156A>T , CM000663.2:g.210804156A>T	GRCh38
NC_000001.10:g.210977498A>T , CM000663.1:g.210977498A>T	GRCh37
NC_000001.9:g.209044121A>T	NCBI36
NG_029777.1:g.334960T>A
NG_029777.2:g.334960T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1473T>A MANE Select	ENSP00000271751.4:p.Tyr491Ter
ENST00000367007.5:c.1392T>A	ENSP00000355974.5:p.Tyr464Ter
ENST00000638357.1:c.806T>A
ENST00000638498.1:c.1473T>A	ENSP00000490983.1:p.Tyr491Ter
ENST00000638960.1:c.1392T>A	ENSP00000492302.1:p.Tyr464Ter
ENST00000639952.1:c.1392T>A	ENSP00000492697.1:p.Tyr464Ter
ENST00000640044.1:c.321T>A	ENSP00000491434.1:p.Tyr107Ter
ENST00000640243.1:c.962T>A	ENSP00000492803.1:p.Met321Lys
ENST00000640522.1:c.1043T>A	ENSP00000491019.1:p.Met348Lys
ENST00000640528.1:c.1392T>A	ENSP00000491725.1:p.Tyr464Ter
ENST00000640566.1:c.311-28612T>A	ENSP00000491302.1:n.311-28612T>A
ENST00000640710.1:c.1392T>A	ENSP00000492513.1:p.Tyr464Ter
ENST00000271751.8:c.1473T>A	ENSP00000271751.4:p.Tyr491Ter
ENST00000367007.4:c.1392T>A	ENSP00000355974.4:p.Tyr464Ter
NM_002238.3:c.1392T>A	NP_002229.1:p.Tyr464Ter
NM_172362.2:c.1473T>A	NP_758872.1:p.Tyr491Ter
XM_011509514.1:c.297T>A	XP_011507816.1:p.Tyr99Ter
XM_017001246.1:c.297T>A	XP_016856735.1:p.Tyr99Ter
NM_172362.3:c.1473T>A MANE Select	NP_758872.1:p.Tyr491Ter
NM_002238.4:c.1392T>A	NP_002229.1:p.Tyr464Ter