Canonical Allele Identifier: CA1139904069

Gene: KCNH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210724921A= , CM000663.2:g.210724921A=	GRCh38
NC_000001.10:g.210898263A= , CM000663.1:g.210898263A=	GRCh37
NC_000001.9:g.208964886A=	NCBI36
NG_029777.1:g.414195T=
NG_029777.2:g.414195T=

Transcript Alleles

HGVS	Amino-acid Change
NM_172362.3:c.2113-40783T= MANE Select	NP_758872.1:n.2113-40783T=
ENST00000271751.10:c.2113-40783T= MANE Select	ENSP00000271751.4:n.2113-40783T=
NM_002238.3:c.2032-40783T=	NP_002229.1:n.2032-40783T=
NM_002238.4:c.2032-40783T=	NP_002229.1:n.2032-40783T=
NM_172362.2:c.2113-40783T=	NP_758872.1:n.2113-40783T=
ENST00000271751.8:c.2113-40783T=	ENSP00000271751.4:n.2113-40783T=
ENST00000367007.4:c.2032-40783T=	ENSP00000355974.4:n.2032-40783T=
ENST00000367007.5:c.2032-40783T=	ENSP00000355974.5:n.2032-40783T=
ENST00000638357.1:c.1249-40783T=
ENST00000638498.1:c.2113-40783T=	ENSP00000490983.1:n.2113-40783T=
ENST00000638960.1:c.2032-40783T=	ENSP00000492302.1:n.2032-40783T=
ENST00000639952.1:c.2032-40783T=	ENSP00000492697.1:n.2032-40783T=
ENST00000640044.1:c.961-40783T=	ENSP00000491434.1:n.961-40783T=
ENST00000640243.1:c.*618-40783T=	ENSP00000492803.1:n.*618-40783T=
ENST00000640528.1:c.2032-40783T=	ENSP00000491725.1:n.2032-40783T=
ENST00000640566.1:c.508-40783T=	ENSP00000491302.1:n.508-40783T=
ENST00000640710.1:c.2032-40783T=	ENSP00000492513.1:n.2032-40783T=
XM_011509514.1:c.937-40783T=	XP_011507816.1:n.937-40783T=
XM_017001246.1:c.937-40783T=	XP_016856735.1:n.937-40783T=
XR_001738445.1:n.327+14234A=
XR_922550.1:n.304+14234A=
XR_922550.2:n.327+14234A=
XR_922551.1:n.68+14234A=