Canonical Allele Identifier: CA344874164

Gene: KCNH1

Linked Data

• MyVariant Identifiers: chr1:g.211093369G>C (hg19) ; chr1:g.210920027G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210920027G>C , CM000663.2:g.210920027G>C	GRCh38
NC_000001.10:g.211093369G>C , CM000663.1:g.211093369G>C	GRCh37
NC_000001.9:g.209159992G>C	NCBI36
NG_029777.1:g.219089C>G
NG_029777.2:g.219089C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1075C>G MANE Select	ENSP00000271751.4:p.Leu359Val
ENST00000367007.5:c.994C>G	ENSP00000355974.5:p.Leu332Val
ENST00000638357.1:c.408C>G
ENST00000638498.1:c.1075C>G	ENSP00000490983.1:p.Leu359Val
ENST00000638960.1:c.994C>G	ENSP00000492302.1:p.Leu332Val
ENST00000638983.1:c.952-58833C>G	ENSP00000492641.1:n.952-58833C>G
ENST00000639385.1:n.443C>G
ENST00000639602.1:c.865C>G	ENSP00000492303.1:p.Leu289Val
ENST00000639754.1:n.1278C>G
ENST00000639952.1:c.994C>G	ENSP00000492697.1:p.Leu332Val
ENST00000640044.1:c.311-115861C>G	ENSP00000491434.1:n.311-115861C>G
ENST00000640243.1:c.951+98837C>G	ENSP00000492803.1:n.951+98837C>G
ENST00000640522.1:c.1032+98756C>G	ENSP00000491019.1:n.1032+98756C>G
ENST00000640528.1:c.994C>G	ENSP00000491725.1:p.Leu332Val
ENST00000640566.1:c.311-144483C>G	ENSP00000491302.1:n.311-144483C>G
ENST00000640710.1:c.994C>G	ENSP00000492513.1:p.Leu332Val
ENST00000640890.1:n.1096C>G
ENST00000271751.8:c.1075C>G	ENSP00000271751.4:p.Leu359Val
ENST00000367007.4:c.994C>G	ENSP00000355974.4:p.Leu332Val
NM_002238.3:c.994C>G	NP_002229.1:p.Leu332Val
NM_172362.2:c.1075C>G	NP_758872.1:p.Leu359Val
XM_011509514.1:c.-102C>G	XP_011507816.1:n.-102C>G
XM_017001246.1:c.-102C>G	XP_016856735.1:n.-102C>G
NM_172362.3:c.1075C>G MANE Select	NP_758872.1:p.Leu359Val
NM_002238.4:c.994C>G	NP_002229.1:p.Leu332Val