Canonical Allele Identifier: CA529003356

Gene: KCNH1

Linked Data

• dbSNP Id: rs1472509818
• gnomAD v2: 1-210977516-TGAG-T
• gnomAD v4: 1-210804174-TGAG-T
• MyVariant Identifiers: chr1:g.210977517_210977519del (hg19) ; chr1:g.210804175_210804177del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210804184_210804186del , CM000663.2:g.210804184_210804186del	GRCh38
NC_000001.10:g.210977526_210977528del , CM000663.1:g.210977526_210977528del	GRCh37
NC_000001.9:g.209044149_209044151del	NCBI36
NG_029777.1:g.334939_334941del
NG_029777.2:g.334939_334941del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1463-11_1463-9del MANE Select	ENSP00000271751.4:n.1463-11_1463-9del
ENST00000367007.5:c.1382-11_1382-9del	ENSP00000355974.5:n.1382-11_1382-9del
ENST00000638357.1:c.796-11_796-9del
ENST00000638498.1:c.1463-11_1463-9del	ENSP00000490983.1:n.1463-11_1463-9del
ENST00000638960.1:c.1382-11_1382-9del	ENSP00000492302.1:n.1382-11_1382-9del
ENST00000639952.1:c.1382-11_1382-9del	ENSP00000492697.1:n.1382-11_1382-9del
ENST00000640044.1:c.311-11_311-9del	ENSP00000491434.1:n.311-11_311-9del
ENST00000640243.1:c.952-11_952-9del	ENSP00000492803.1:n.952-11_952-9del
ENST00000640522.1:c.1033-11_1033-9del	ENSP00000491019.1:n.1033-11_1033-9del
ENST00000640528.1:c.1382-11_1382-9del	ENSP00000491725.1:n.1382-11_1382-9del
ENST00000640566.1:c.311-28633_311-28631del	ENSP00000491302.1:n.311-28633_311-28631del
ENST00000640710.1:c.1382-11_1382-9del	ENSP00000492513.1:n.1382-11_1382-9del
ENST00000271751.8:c.1463-11_1463-9del	ENSP00000271751.4:n.1463-11_1463-9del
ENST00000367007.4:c.1382-11_1382-9del	ENSP00000355974.4:n.1382-11_1382-9del
NM_002238.3:c.1382-11_1382-9del	NP_002229.1:n.1382-11_1382-9del
NM_172362.2:c.1463-11_1463-9del	NP_758872.1:n.1463-11_1463-9del
XM_011509514.1:c.287-11_287-9del	XP_011507816.1:n.287-11_287-9del
XM_017001246.1:c.287-11_287-9del	XP_016856735.1:n.287-11_287-9del
NM_172362.3:c.1463-11_1463-9del MANE Select	NP_758872.1:n.1463-11_1463-9del
NM_002238.4:c.1382-11_1382-9del	NP_002229.1:n.1382-11_1382-9del