Canonical Allele Identifier: CA344876375

Gene: KCNH1

Linked Data

• MyVariant Identifiers: chr1:g.211192508T>A (hg19) ; chr1:g.211019166T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211019166T>A , CM000663.2:g.211019166T>A	GRCh38
NC_000001.10:g.211192508T>A , CM000663.1:g.211192508T>A	GRCh37
NC_000001.9:g.209259131T>A	NCBI36
NG_029777.1:g.119950A>T
NG_029777.2:g.119950A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000271751.10:c.649A>T MANE Select	ENSP00000271751.4:p.Lys217Ter
ENST00000367007.5:c.649A>T	ENSP00000355974.5:p.Lys217Ter
ENST00000638357.1:c.63A>T
ENST00000638498.1:c.649A>T	ENSP00000490983.1:p.Lys217Ter
ENST00000638960.1:c.649A>T	ENSP00000492302.1:p.Lys217Ter
ENST00000638983.1:c.649A>T	ENSP00000492641.1:p.Lys217Ter
ENST00000639385.1:n.25A>T
ENST00000639602.1:c.520A>T	ENSP00000492303.1:p.Lys174Ter
ENST00000639754.1:n.852A>T
ENST00000639952.1:c.649A>T	ENSP00000492697.1:p.Lys217Ter
ENST00000640044.1:c.310+84330A>T	ENSP00000491434.1:n.310+84330A>T
ENST00000640243.1:c.649A>T	ENSP00000492803.1:p.Lys217Ter
ENST00000640522.1:c.649A>T	ENSP00000491019.1:p.Lys217Ter
ENST00000640528.1:c.649A>T	ENSP00000491725.1:p.Lys217Ter
ENST00000640566.1:c.310+84330A>T	ENSP00000491302.1:n.310+84330A>T
ENST00000640710.1:c.649A>T	ENSP00000492513.1:p.Lys217Ter
ENST00000640890.1:n.751A>T
ENST00000271751.8:c.649A>T	ENSP00000271751.4:p.Lys217Ter
ENST00000367007.4:c.649A>T	ENSP00000355974.4:p.Lys217Ter
NM_002238.3:c.649A>T	NP_002229.1:p.Lys217Ter
NM_172362.2:c.649A>T	NP_758872.1:p.Lys217Ter
NM_172362.3:c.649A>T MANE Select	NP_758872.1:p.Lys217Ter
NM_002238.4:c.649A>T	NP_002229.1:p.Lys217Ter