Canonical Allele Identifier: CA344874275

Gene: KCNH1

Linked Data

• MyVariant Identifiers: chr1:g.211093396A>C (hg19) ; chr1:g.210920054A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210920054A>C , CM000663.2:g.210920054A>C	GRCh38
NC_000001.10:g.211093396A>C , CM000663.1:g.211093396A>C	GRCh37
NC_000001.9:g.209160019A>C	NCBI36
NG_029777.1:g.219062T>G
NG_029777.2:g.219062T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000271751.10:c.1048T>G MANE Select	ENSP00000271751.4:p.Phe350Val
ENST00000367007.5:c.967T>G	ENSP00000355974.5:p.Phe323Val
ENST00000638357.1:c.381T>G
ENST00000638498.1:c.1048T>G	ENSP00000490983.1:p.Phe350Val
ENST00000638960.1:c.967T>G	ENSP00000492302.1:p.Phe323Val
ENST00000638983.1:c.952-58860T>G	ENSP00000492641.1:n.952-58860T>G
ENST00000639385.1:n.416T>G
ENST00000639602.1:c.838T>G	ENSP00000492303.1:p.Phe280Val
ENST00000639754.1:n.1251T>G
ENST00000639952.1:c.967T>G	ENSP00000492697.1:p.Phe323Val
ENST00000640044.1:c.311-115888T>G	ENSP00000491434.1:n.311-115888T>G
ENST00000640243.1:c.951+98810T>G	ENSP00000492803.1:n.951+98810T>G
ENST00000640522.1:c.1032+98729T>G	ENSP00000491019.1:n.1032+98729T>G
ENST00000640528.1:c.967T>G	ENSP00000491725.1:p.Phe323Val
ENST00000640566.1:c.311-144510T>G	ENSP00000491302.1:n.311-144510T>G
ENST00000640710.1:c.967T>G	ENSP00000492513.1:p.Phe323Val
ENST00000640890.1:n.1069T>G
ENST00000271751.8:c.1048T>G	ENSP00000271751.4:p.Phe350Val
ENST00000367007.4:c.967T>G	ENSP00000355974.4:p.Phe323Val
NM_002238.3:c.967T>G	NP_002229.1:p.Phe323Val
NM_172362.2:c.1048T>G	NP_758872.1:p.Phe350Val
XM_011509514.1:c.-129T>G	XP_011507816.1:n.-129T>G
XM_017001246.1:c.-129T>G	XP_016856735.1:n.-129T>G
NM_172362.3:c.1048T>G MANE Select	NP_758872.1:p.Phe350Val
NM_002238.4:c.967T>G	NP_002229.1:p.Phe323Val