Canonical Allele Identifier: CA344874009

Gene: KCNH1

Linked Data

• MyVariant Identifiers: chr1:g.211093338T>A (hg19) ; chr1:g.210919996T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210919996T>A , CM000663.2:g.210919996T>A	GRCh38
NC_000001.10:g.211093338T>A , CM000663.1:g.211093338T>A	GRCh37
NC_000001.9:g.209159961T>A	NCBI36
NG_029777.1:g.219120A>T
NG_029777.2:g.219120A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1106A>T MANE Select	ENSP00000271751.4:p.Asp369Val
ENST00000367007.5:c.1025A>T	ENSP00000355974.5:p.Asp342Val
ENST00000638357.1:c.439A>T
ENST00000638498.1:c.1106A>T	ENSP00000490983.1:p.Asp369Val
ENST00000638960.1:c.1025A>T	ENSP00000492302.1:p.Asp342Val
ENST00000638983.1:c.952-58802A>T	ENSP00000492641.1:n.952-58802A>T
ENST00000639385.1:n.474A>T
ENST00000639602.1:c.896A>T	ENSP00000492303.1:p.Asp299Val
ENST00000639754.1:n.1309A>T
ENST00000639952.1:c.1025A>T	ENSP00000492697.1:p.Asp342Val
ENST00000640044.1:c.311-115830A>T	ENSP00000491434.1:n.311-115830A>T
ENST00000640243.1:c.951+98868A>T	ENSP00000492803.1:n.951+98868A>T
ENST00000640522.1:c.1032+98787A>T	ENSP00000491019.1:n.1032+98787A>T
ENST00000640528.1:c.1025A>T	ENSP00000491725.1:p.Asp342Val
ENST00000640566.1:c.311-144452A>T	ENSP00000491302.1:n.311-144452A>T
ENST00000640710.1:c.1025A>T	ENSP00000492513.1:p.Asp342Val
ENST00000640890.1:n.1127A>T
ENST00000271751.8:c.1106A>T	ENSP00000271751.4:p.Asp369Val
ENST00000367007.4:c.1025A>T	ENSP00000355974.4:p.Asp342Val
NM_002238.3:c.1025A>T	NP_002229.1:p.Asp342Val
NM_172362.2:c.1106A>T	NP_758872.1:p.Asp369Val
XM_011509514.1:c.-71A>T	XP_011507816.1:n.-71A>T
XM_017001246.1:c.-71A>T	XP_016856735.1:n.-71A>T
NM_172362.3:c.1106A>T MANE Select	NP_758872.1:p.Asp369Val
NM_002238.4:c.1025A>T	NP_002229.1:p.Asp342Val