Canonical Allele Identifier: CA423145425

Gene: KCNH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210683605A>G , CM000663.2:g.210683605A>G	GRCh38
NC_000001.10:g.210856947A>G , CM000663.1:g.210856947A>G	GRCh37
NC_000001.9:g.208923570A>G	NCBI36
NG_029777.1:g.455511T>C
NG_029777.2:g.455511T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.2646T>C MANE Select	ENSP00000271751.4:p.Ser882=
ENST00000367007.5:c.2565T>C	ENSP00000355974.5:p.Ser855=
ENST00000638357.1:c.1782T>C
ENST00000638498.1:c.2646T>C	ENSP00000490983.1:p.Ser882=
ENST00000638960.1:c.2565T>C	ENSP00000492302.1:p.Ser855=
ENST00000639952.1:c.2565T>C	ENSP00000492697.1:p.Ser855=
ENST00000640044.1:c.1494T>C	ENSP00000491434.1:p.Ser498=
ENST00000640243.1:c.*1151T>C	ENSP00000492803.1:n.*1151T>C
ENST00000640528.1:c.2565T>C	ENSP00000491725.1:p.Ser855=
ENST00000640566.1:c.1041T>C	ENSP00000491302.1:p.Ser347=
ENST00000640625.1:c.325T>C
ENST00000640710.1:c.2565T>C	ENSP00000492513.1:p.Ser855=
ENST00000271751.8:c.2646T>C	ENSP00000271751.4:p.Ser882=
ENST00000367007.4:c.2565T>C	ENSP00000355974.4:p.Ser855=
NM_002238.3:c.2565T>C	NP_002229.1:p.Ser855=
NM_172362.2:c.2646T>C	NP_758872.1:p.Ser882=
XM_011509514.1:c.1470T>C	XP_011507816.1:p.Ser490=
XM_017001246.1:c.1470T>C	XP_016856735.1:p.Ser490=
NM_172362.3:c.2646T>C MANE Select	NP_758872.1:p.Ser882=
NM_002238.4:c.2565T>C	NP_002229.1:p.Ser855=