Canonical Allele Identifier: CA37124785

Gene: KCNH1

Linked Data

• dbSNP Id: rs1035223726
• gnomAD v3: 1-210804215-CCTGAGCCAGGGTTCCAGAATG-C
• gnomAD v4: 1-210804215-CCTGAGCCAGGGTTCCAGAATG-C
• MyVariant Identifiers: chr1:g.210977558_210977578del (hg19) ; chr1:g.210804217_210804237del (hg38) ; chr1:g.210804216_210804236del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210804218_210804238del , CM000663.2:g.210804218_210804238del	GRCh38
NC_000001.10:g.210977560_210977580del , CM000663.1:g.210977560_210977580del	GRCh37
NC_000001.9:g.209044183_209044203del	NCBI36
NG_029777.1:g.334880_334900del
NG_029777.2:g.334880_334900del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1463-70_1463-50del MANE Select	ENSP00000271751.4:n.1463-70_1463-50del
ENST00000367007.5:c.1382-70_1382-50del	ENSP00000355974.5:n.1382-70_1382-50del
ENST00000638357.1:c.796-70_796-50del
ENST00000638498.1:c.1463-70_1463-50del	ENSP00000490983.1:n.1463-70_1463-50del
ENST00000638960.1:c.1382-70_1382-50del	ENSP00000492302.1:n.1382-70_1382-50del
ENST00000639952.1:c.1382-70_1382-50del	ENSP00000492697.1:n.1382-70_1382-50del
ENST00000640044.1:c.311-70_311-50del	ENSP00000491434.1:n.311-70_311-50del
ENST00000640243.1:c.952-70_952-50del	ENSP00000492803.1:n.952-70_952-50del
ENST00000640522.1:c.1033-70_1033-50del	ENSP00000491019.1:n.1033-70_1033-50del
ENST00000640528.1:c.1382-70_1382-50del	ENSP00000491725.1:n.1382-70_1382-50del
ENST00000640566.1:c.311-28692_311-28672del	ENSP00000491302.1:n.311-28692_311-28672del
ENST00000640710.1:c.1382-70_1382-50del	ENSP00000492513.1:n.1382-70_1382-50del
ENST00000271751.8:c.1463-70_1463-50del	ENSP00000271751.4:n.1463-70_1463-50del
ENST00000367007.4:c.1382-70_1382-50del	ENSP00000355974.4:n.1382-70_1382-50del
NM_002238.3:c.1382-70_1382-50del	NP_002229.1:n.1382-70_1382-50del
NM_172362.2:c.1463-70_1463-50del	NP_758872.1:n.1463-70_1463-50del
XM_011509514.1:c.287-70_287-50del	XP_011507816.1:n.287-70_287-50del
XM_017001246.1:c.287-70_287-50del	XP_016856735.1:n.287-70_287-50del
NM_172362.3:c.1463-70_1463-50del MANE Select	NP_758872.1:n.1463-70_1463-50del
NM_002238.4:c.1382-70_1382-50del	NP_002229.1:n.1382-70_1382-50del