Canonical Allele Identifier: CA1379910

Gene: KCNH1

Linked Data

• dbSNP Id: rs747873178
• ExAC: 1:211093288 AC / A
• gnomAD v2: 1-211093288-AC-A
• MyVariant Identifiers: chr1:g.211093289del (hg19) ; chr1:g.210919947del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210919947del , CM000663.2:g.210919947del	GRCh38
NC_000001.10:g.211093289del , CM000663.1:g.211093289del	GRCh37
NC_000001.9:g.209159912del	NCBI36
NG_029777.1:g.219169del
NG_029777.2:g.219169del

Transcript Alleles

HGVS	Amino-acid change
ENST00000271751.10:c.1155del MANE Select	ENSP00000271751.4:p.Phe386LeufsTer?
ENST00000367007.5:c.1074del	ENSP00000355974.5:p.Phe359LeufsTer?
ENST00000638357.1:c.488del
ENST00000638498.1:c.1155del	ENSP00000490983.1:p.Phe386LeufsTer?
ENST00000638960.1:c.1074del	ENSP00000492302.1:p.Phe359LeufsTer?
ENST00000638983.1:c.952-58753del	ENSP00000492641.1:n.952-58753del
ENST00000639385.1:n.523del
ENST00000639602.1:c.945del	ENSP00000492303.1:p.Phe316LeufsTer?
ENST00000639754.1:n.1358del
ENST00000639952.1:c.1074del	ENSP00000492697.1:p.Phe359LeufsTer?
ENST00000640044.1:c.311-115781del	ENSP00000491434.1:n.311-115781del
ENST00000640243.1:c.951+98917del	ENSP00000492803.1:n.951+98917del
ENST00000640522.1:c.1032+98836del	ENSP00000491019.1:n.1032+98836del
ENST00000640528.1:c.1074del	ENSP00000491725.1:p.Phe359LeufsTer?
ENST00000640566.1:c.311-144403del	ENSP00000491302.1:n.311-144403del
ENST00000640710.1:c.1074del	ENSP00000492513.1:p.Phe359LeufsTer?
ENST00000640890.1:n.1176del
ENST00000271751.8:c.1155del	ENSP00000271751.4:p.Phe386LeufsTer?
ENST00000367007.4:c.1074del	ENSP00000355974.4:p.Phe359LeufsTer?
NM_002238.3:c.1074del	NP_002229.1:p.Phe359LeufsTer?
NM_172362.2:c.1155del	NP_758872.1:p.Phe386LeufsTer?
XM_011509514.1:c.-22del	XP_011507816.1:n.-22del
XM_017001246.1:c.-22del	XP_016856735.1:n.-22del
NM_172362.3:c.1155del MANE Select	NP_758872.1:p.Phe386LeufsTer?
NM_002238.4:c.1074del	NP_002229.1:p.Phe359LeufsTer?