Canonical Allele Identifier: CA358383

Gene: KCNH1

Linked Data

• PubMed: PMID:18541964 ; PMID:25915598

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.[210919955C>G;210920047G>T] , CM000663.2:g.[210919955C>G;210920047G>T]	GRCh38
NC_000001.10:g.[211093297C>G;211093389G>T] , CM000663.1:g.[211093297C>G;211093389G>T]	GRCh37
NC_000001.9:g.[209159920C>G;209160012G>T]	NCBI36
NG_029777.1:g.[219069C>A;219161G>C]
NG_029777.2:g.[219069C>A;219161G>C]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.[1055C>A;1147G>C] MANE Select	ENSP00000271751.4:p.[Ser352Tyr;Val383Leu]
ENST00000367007.5:c.[974C>A;1066G>C]	ENSP00000355974.5:p.[Ser325Tyr;Val356Leu]
ENST00000638357.1:c.[388C>A;480G>C]
ENST00000638498.1:c.[1055C>A;1147G>C]	ENSP00000490983.1:p.[Ser352Tyr;Val383Leu]
ENST00000638960.1:c.[974C>A;1066G>C]	ENSP00000492302.1:p.[Ser325Tyr;Val356Leu]
ENST00000638983.1:c.[952-58853C>A;952-58761G>C]	ENSP00000492641.1:n.[952-58853C>A;952-58761G>C]
ENST00000639385.1:n.[423C>A;515G>C]
ENST00000639602.1:c.[845C>A;937G>C]	ENSP00000492303.1:p.[Ser282Tyr;Val313Leu]
ENST00000639754.1:n.[1258C>A;1350G>C]
ENST00000639952.1:c.[974C>A;1066G>C]	ENSP00000492697.1:p.[Ser325Tyr;Val356Leu]
ENST00000640044.1:c.[311-115881C>A;311-115789G>C]	ENSP00000491434.1:n.[311-115881C>A;311-115789G>C]
ENST00000640243.1:c.[951+98817C>A;951+98909G>C]	ENSP00000492803.1:n.[951+98817C>A;951+98909G>C]
ENST00000640522.1:c.[1032+98736C>A;1032+98828G>C]	ENSP00000491019.1:n.[1032+98736C>A;1032+98828G>C]
ENST00000640528.1:c.[974C>A;1066G>C]	ENSP00000491725.1:p.[Ser325Tyr;Val356Leu]
ENST00000640566.1:c.[311-144503C>A;311-144411G>C]	ENSP00000491302.1:n.[311-144503C>A;311-144411G>C]
ENST00000640710.1:c.[974C>A;1066G>C]	ENSP00000492513.1:p.[Ser325Tyr;Val356Leu]
ENST00000640890.1:n.[1076C>A;1168G>C]
ENST00000271751.8:c.[1055C>A;1147G>C]	ENSP00000271751.4:p.[Ser352Tyr;Val383Leu]
ENST00000367007.4:c.[974C>A;1066G>C]	ENSP00000355974.4:p.[Ser325Tyr;Val356Leu]
NM_002238.3:c.[974C>A;1066G>C]	NP_002229.1:p.[Ser325Tyr;Val356Leu]
NM_172362.2:c.[1055C>A;1147G>C]	NP_758872.1:p.[Ser352Tyr;Val383Leu]
XM_011509514.1:c.[-122C>A;-30G>C]	XP_011507816.1:n.[-122C>A;-30G>C]
XM_017001246.1:c.[-122C>A;-30G>C]	XP_016856735.1:n.[-122C>A;-30G>C]
NM_172362.3:c.[1055C>A;1147G>C] MANE Select	NP_758872.1:p.[Ser352Tyr;Val383Leu]
NM_002238.4:c.[974C>A;1066G>C]	NP_002229.1:p.[Ser325Tyr;Val356Leu]