Canonical Allele Identifier: CA344873872

Gene: KCNH1

Linked Data

• MyVariant Identifiers: chr1:g.211093317G>A (hg19) ; chr1:g.210919975G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210919975G>A , CM000663.2:g.210919975G>A	GRCh38
NC_000001.10:g.211093317G>A , CM000663.1:g.211093317G>A	GRCh37
NC_000001.9:g.209159940G>A	NCBI36
NG_029777.1:g.219141C>T
NG_029777.2:g.219141C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1127C>T MANE Select	ENSP00000271751.4:p.Ala376Val
ENST00000367007.5:c.1046C>T	ENSP00000355974.5:p.Ala349Val
ENST00000638357.1:c.460C>T
ENST00000638498.1:c.1127C>T	ENSP00000490983.1:p.Ala376Val
ENST00000638960.1:c.1046C>T	ENSP00000492302.1:p.Ala349Val
ENST00000638983.1:c.952-58781C>T	ENSP00000492641.1:n.952-58781C>T
ENST00000639385.1:n.495C>T
ENST00000639602.1:c.917C>T	ENSP00000492303.1:p.Ala306Val
ENST00000639754.1:n.1330C>T
ENST00000639952.1:c.1046C>T	ENSP00000492697.1:p.Ala349Val
ENST00000640044.1:c.311-115809C>T	ENSP00000491434.1:n.311-115809C>T
ENST00000640243.1:c.951+98889C>T	ENSP00000492803.1:n.951+98889C>T
ENST00000640522.1:c.1032+98808C>T	ENSP00000491019.1:n.1032+98808C>T
ENST00000640528.1:c.1046C>T	ENSP00000491725.1:p.Ala349Val
ENST00000640566.1:c.311-144431C>T	ENSP00000491302.1:n.311-144431C>T
ENST00000640710.1:c.1046C>T	ENSP00000492513.1:p.Ala349Val
ENST00000640890.1:n.1148C>T
ENST00000271751.8:c.1127C>T	ENSP00000271751.4:p.Ala376Val
ENST00000367007.4:c.1046C>T	ENSP00000355974.4:p.Ala349Val
NM_002238.3:c.1046C>T	NP_002229.1:p.Ala349Val
NM_172362.2:c.1127C>T	NP_758872.1:p.Ala376Val
XM_011509514.1:c.-50C>T	XP_011507816.1:n.-50C>T
XM_017001246.1:c.-50C>T	XP_016856735.1:n.-50C>T
NM_172362.3:c.1127C>T MANE Select	NP_758872.1:p.Ala376Val
NM_002238.4:c.1046C>T	NP_002229.1:p.Ala349Val