Canonical Allele Identifier: CA2484836233

Gene: KCNH1

Linked Data

• dbSNP Id: rs1687430145

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210920164T>G , CM000663.2:g.210920164T>G	GRCh38
NC_000001.10:g.211093506T>G , CM000663.1:g.211093506T>G	GRCh37
NC_000001.9:g.209160129T>G	NCBI36
NG_029777.1:g.218952A>C
NG_029777.2:g.218952A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1033-95A>C MANE Select	ENSP00000271751.4:n.1033-95A>C
ENST00000367007.5:c.952-95A>C	ENSP00000355974.5:n.952-95A>C
ENST00000638357.1:c.366-95A>C
ENST00000638498.1:c.1033-95A>C	ENSP00000490983.1:n.1033-95A>C
ENST00000638960.1:c.952-95A>C	ENSP00000492302.1:n.952-95A>C
ENST00000638983.1:c.952-58970A>C	ENSP00000492641.1:n.952-58970A>C
ENST00000639385.1:n.409-103A>C
ENST00000639602.1:c.823-95A>C	ENSP00000492303.1:n.823-95A>C
ENST00000639754.1:n.1236-95A>C
ENST00000639952.1:c.952-95A>C	ENSP00000492697.1:n.952-95A>C
ENST00000640044.1:c.311-115998A>C	ENSP00000491434.1:n.311-115998A>C
ENST00000640243.1:c.951+98700A>C	ENSP00000492803.1:n.951+98700A>C
ENST00000640522.1:c.1032+98619A>C	ENSP00000491019.1:n.1032+98619A>C
ENST00000640528.1:c.952-95A>C	ENSP00000491725.1:n.952-95A>C
ENST00000640566.1:c.311-144620A>C	ENSP00000491302.1:n.311-144620A>C
ENST00000640710.1:c.952-95A>C	ENSP00000492513.1:n.952-95A>C
ENST00000640890.1:n.1054-95A>C
ENST00000271751.8:c.1033-95A>C	ENSP00000271751.4:n.1033-95A>C
ENST00000367007.4:c.952-95A>C	ENSP00000355974.4:n.952-95A>C
NM_002238.3:c.952-95A>C	NP_002229.1:n.952-95A>C
NM_172362.2:c.1033-95A>C	NP_758872.1:n.1033-95A>C
XM_011509514.1:c.-144-95A>C	XP_011507816.1:n.-144-95A>C
XM_017001246.1:c.-144-95A>C	XP_016856735.1:n.-144-95A>C
NM_172362.3:c.1033-95A>C MANE Select	NP_758872.1:n.1033-95A>C
NM_002238.4:c.952-95A>C	NP_002229.1:n.952-95A>C