Canonical Allele Identifier: CA2650361848

Gene: KCNH1

Linked Data

• gnomAD v4: 1-210804241-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210804241G>T , CM000663.2:g.210804241G>T	GRCh38
NC_000001.10:g.210977583G>T , CM000663.1:g.210977583G>T	GRCh37
NC_000001.9:g.209044206G>T	NCBI36
NG_029777.1:g.334875C>A
NG_029777.2:g.334875C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1463-75C>A MANE Select	ENSP00000271751.4:n.1463-75C>A
ENST00000367007.5:c.1382-75C>A	ENSP00000355974.5:n.1382-75C>A
ENST00000638357.1:c.796-75C>A
ENST00000638498.1:c.1463-75C>A	ENSP00000490983.1:n.1463-75C>A
ENST00000638960.1:c.1382-75C>A	ENSP00000492302.1:n.1382-75C>A
ENST00000639952.1:c.1382-75C>A	ENSP00000492697.1:n.1382-75C>A
ENST00000640044.1:c.311-75C>A	ENSP00000491434.1:n.311-75C>A
ENST00000640243.1:c.952-75C>A	ENSP00000492803.1:n.952-75C>A
ENST00000640522.1:c.1033-75C>A	ENSP00000491019.1:n.1033-75C>A
ENST00000640528.1:c.1382-75C>A	ENSP00000491725.1:n.1382-75C>A
ENST00000640566.1:c.311-28697C>A	ENSP00000491302.1:n.311-28697C>A
ENST00000640710.1:c.1382-75C>A	ENSP00000492513.1:n.1382-75C>A
ENST00000271751.8:c.1463-75C>A	ENSP00000271751.4:n.1463-75C>A
ENST00000367007.4:c.1382-75C>A	ENSP00000355974.4:n.1382-75C>A
NM_002238.3:c.1382-75C>A	NP_002229.1:n.1382-75C>A
NM_172362.2:c.1463-75C>A	NP_758872.1:n.1463-75C>A
XM_011509514.1:c.287-75C>A	XP_011507816.1:n.287-75C>A
XM_017001246.1:c.287-75C>A	XP_016856735.1:n.287-75C>A
NM_172362.3:c.1463-75C>A MANE Select	NP_758872.1:n.1463-75C>A
NM_002238.4:c.1382-75C>A	NP_002229.1:n.1382-75C>A