Canonical Allele Identifier: CA1379614

Gene: KCNH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210683590G>A , CM000663.2:g.210683590G>A	GRCh38
NC_000001.10:g.210856932G>A , CM000663.1:g.210856932G>A	GRCh37
NC_000001.9:g.208923555G>A	NCBI36
NG_029777.1:g.455526C>T
NG_029777.2:g.455526C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.2661C>T MANE Select	ENSP00000271751.4:p.Ser887=
ENST00000367007.5:c.2580C>T	ENSP00000355974.5:p.Ser860=
ENST00000638357.1:c.1797C>T
ENST00000638498.1:c.2661C>T	ENSP00000490983.1:p.Ser887=
ENST00000638960.1:c.2580C>T	ENSP00000492302.1:p.Ser860=
ENST00000639952.1:c.2580C>T	ENSP00000492697.1:p.Ser860=
ENST00000640044.1:c.1509C>T	ENSP00000491434.1:p.Ser503=
ENST00000640243.1:c.*1166C>T	ENSP00000492803.1:n.*1166C>T
ENST00000640528.1:c.2580C>T	ENSP00000491725.1:p.Ser860=
ENST00000640566.1:c.1056C>T	ENSP00000491302.1:p.Ser352=
ENST00000640625.1:c.340C>T
ENST00000640710.1:c.2580C>T	ENSP00000492513.1:p.Ser860=
ENST00000271751.8:c.2661C>T	ENSP00000271751.4:p.Ser887=
ENST00000367007.4:c.2580C>T	ENSP00000355974.4:p.Ser860=
NM_002238.3:c.2580C>T	NP_002229.1:p.Ser860=
NM_172362.2:c.2661C>T	NP_758872.1:p.Ser887=
XM_011509514.1:c.1485C>T	XP_011507816.1:p.Ser495=
XM_017001246.1:c.1485C>T	XP_016856735.1:p.Ser495=
NM_172362.3:c.2661C>T MANE Select	NP_758872.1:p.Ser887=
NM_002238.4:c.2580C>T	NP_002229.1:p.Ser860=