Canonical Allele Identifier: CA344874293

Gene: KCNH1

Linked Data

• MyVariant Identifiers: chr1:g.211093400G>T (hg19) ; chr1:g.210920058G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210920058G>T , CM000663.2:g.210920058G>T	GRCh38
NC_000001.10:g.211093400G>T , CM000663.1:g.211093400G>T	GRCh37
NC_000001.9:g.209160023G>T	NCBI36
NG_029777.1:g.219058C>A
NG_029777.2:g.219058C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1044C>A MANE Select	ENSP00000271751.4:p.Ser348Arg
ENST00000367007.5:c.963C>A	ENSP00000355974.5:p.Ser321Arg
ENST00000638357.1:c.377C>A
ENST00000638498.1:c.1044C>A	ENSP00000490983.1:p.Ser348Arg
ENST00000638960.1:c.963C>A	ENSP00000492302.1:p.Ser321Arg
ENST00000638983.1:c.952-58864C>A	ENSP00000492641.1:n.952-58864C>A
ENST00000639385.1:n.412C>A
ENST00000639602.1:c.834C>A	ENSP00000492303.1:p.Ser278Arg
ENST00000639754.1:n.1247C>A
ENST00000639952.1:c.963C>A	ENSP00000492697.1:p.Ser321Arg
ENST00000640044.1:c.311-115892C>A	ENSP00000491434.1:n.311-115892C>A
ENST00000640243.1:c.951+98806C>A	ENSP00000492803.1:n.951+98806C>A
ENST00000640522.1:c.1032+98725C>A	ENSP00000491019.1:n.1032+98725C>A
ENST00000640528.1:c.963C>A	ENSP00000491725.1:p.Ser321Arg
ENST00000640566.1:c.311-144514C>A	ENSP00000491302.1:n.311-144514C>A
ENST00000640710.1:c.963C>A	ENSP00000492513.1:p.Ser321Arg
ENST00000640890.1:n.1065C>A
ENST00000271751.8:c.1044C>A	ENSP00000271751.4:p.Ser348Arg
ENST00000367007.4:c.963C>A	ENSP00000355974.4:p.Ser321Arg
NM_002238.3:c.963C>A	NP_002229.1:p.Ser321Arg
NM_172362.2:c.1044C>A	NP_758872.1:p.Ser348Arg
XM_011509514.1:c.-133C>A	XP_011507816.1:n.-133C>A
XM_017001246.1:c.-133C>A	XP_016856735.1:n.-133C>A
NM_172362.3:c.1044C>A MANE Select	NP_758872.1:p.Ser348Arg
NM_002238.4:c.963C>A	NP_002229.1:p.Ser321Arg