Canonical Allele Identifier: CA344873809

Gene: KCNH1

Linked Data

• dbSNP Id: rs1558526005
• MyVariant Identifiers: chr1:g.211093291C>T (hg19) ; chr1:g.210919949C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210919949C>T , CM000663.2:g.210919949C>T	GRCh38
NC_000001.10:g.211093291C>T , CM000663.1:g.211093291C>T	GRCh37
NC_000001.9:g.209159914C>T	NCBI36
NG_029777.1:g.219167G>A
NG_029777.2:g.219167G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1153G>A MANE Select	ENSP00000271751.4:p.Val385Met
ENST00000367007.5:c.1072G>A	ENSP00000355974.5:p.Val358Met
ENST00000638357.1:c.486G>A
ENST00000638498.1:c.1153G>A	ENSP00000490983.1:p.Val385Met
ENST00000638960.1:c.1072G>A	ENSP00000492302.1:p.Val358Met
ENST00000638983.1:c.952-58755G>A	ENSP00000492641.1:n.952-58755G>A
ENST00000639385.1:n.521G>A
ENST00000639602.1:c.943G>A	ENSP00000492303.1:p.Val315Met
ENST00000639754.1:n.1356G>A
ENST00000639952.1:c.1072G>A	ENSP00000492697.1:p.Val358Met
ENST00000640044.1:c.311-115783G>A	ENSP00000491434.1:n.311-115783G>A
ENST00000640243.1:c.951+98915G>A	ENSP00000492803.1:n.951+98915G>A
ENST00000640522.1:c.1032+98834G>A	ENSP00000491019.1:n.1032+98834G>A
ENST00000640528.1:c.1072G>A	ENSP00000491725.1:p.Val358Met
ENST00000640566.1:c.311-144405G>A	ENSP00000491302.1:n.311-144405G>A
ENST00000640710.1:c.1072G>A	ENSP00000492513.1:p.Val358Met
ENST00000640890.1:n.1174G>A
ENST00000271751.8:c.1153G>A	ENSP00000271751.4:p.Val385Met
ENST00000367007.4:c.1072G>A	ENSP00000355974.4:p.Val358Met
NM_002238.3:c.1072G>A	NP_002229.1:p.Val358Met
NM_172362.2:c.1153G>A	NP_758872.1:p.Val385Met
XM_011509514.1:c.-24G>A	XP_011507816.1:n.-24G>A
XM_017001246.1:c.-24G>A	XP_016856735.1:n.-24G>A
NM_172362.3:c.1153G>A MANE Select	NP_758872.1:p.Val385Met
NM_002238.4:c.1072G>A	NP_002229.1:p.Val358Met