Canonical Allele Identifier: CA344870753

Gene: KCNH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210683615G>A , CM000663.2:g.210683615G>A	GRCh38
NC_000001.10:g.210856957G>A , CM000663.1:g.210856957G>A	GRCh37
NC_000001.9:g.208923580G>A	NCBI36
NG_029777.1:g.455501C>T
NG_029777.2:g.455501C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.2636C>T MANE Select	ENSP00000271751.4:p.Ser879Leu
ENST00000367007.5:c.2555C>T	ENSP00000355974.5:p.Ser852Leu
ENST00000638357.1:c.1772C>T
ENST00000638498.1:c.2636C>T	ENSP00000490983.1:p.Ser879Leu
ENST00000638960.1:c.2555C>T	ENSP00000492302.1:p.Ser852Leu
ENST00000639952.1:c.2555C>T	ENSP00000492697.1:p.Ser852Leu
ENST00000640044.1:c.1484C>T	ENSP00000491434.1:p.Ser495Leu
ENST00000640243.1:c.*1141C>T	ENSP00000492803.1:n.*1141C>T
ENST00000640528.1:c.2555C>T	ENSP00000491725.1:p.Ser852Leu
ENST00000640566.1:c.1031C>T	ENSP00000491302.1:p.Ser344Leu
ENST00000640625.1:c.315C>T
ENST00000640710.1:c.2555C>T	ENSP00000492513.1:p.Ser852Leu
ENST00000271751.8:c.2636C>T	ENSP00000271751.4:p.Ser879Leu
ENST00000367007.4:c.2555C>T	ENSP00000355974.4:p.Ser852Leu
NM_002238.3:c.2555C>T	NP_002229.1:p.Ser852Leu
NM_172362.2:c.2636C>T	NP_758872.1:p.Ser879Leu
XM_011509514.1:c.1460C>T	XP_011507816.1:p.Ser487Leu
XM_017001246.1:c.1460C>T	XP_016856735.1:p.Ser487Leu
NM_172362.3:c.2636C>T MANE Select	NP_758872.1:p.Ser879Leu
NM_002238.4:c.2555C>T	NP_002229.1:p.Ser852Leu