Canonical Allele Identifier: CA1379919

Gene: KCNH1

Linked Data

• ClinVar Variation Id: 1427888
• ClinVar RCV Id: RCV001946038 ; RCV004552117
• dbSNP Id: rs754172417
• ExAC: 1:211093378 C / T
• gnomAD v2: 1-211093378-C-T
• gnomAD v3: 1-210920036-C-T
• gnomAD v4: 1-210920036-C-T
• MyVariant Identifiers: chr1:g.211093378C>T (hg19) ; chr1:g.210920036C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210920036C>T , CM000663.2:g.210920036C>T	GRCh38
NC_000001.10:g.211093378C>T , CM000663.1:g.211093378C>T	GRCh37
NC_000001.9:g.209160001C>T	NCBI36
NG_029777.1:g.219080G>A
NG_029777.2:g.219080G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1066G>A MANE Select	ENSP00000271751.4:p.Val356Ile
ENST00000367007.5:c.985G>A	ENSP00000355974.5:p.Val329Ile
ENST00000638357.1:c.399G>A
ENST00000638498.1:c.1066G>A	ENSP00000490983.1:p.Val356Ile
ENST00000638960.1:c.985G>A	ENSP00000492302.1:p.Val329Ile
ENST00000638983.1:c.952-58842G>A	ENSP00000492641.1:n.952-58842G>A
ENST00000639385.1:n.434G>A
ENST00000639602.1:c.856G>A	ENSP00000492303.1:p.Val286Ile
ENST00000639754.1:n.1269G>A
ENST00000639952.1:c.985G>A	ENSP00000492697.1:p.Val329Ile
ENST00000640044.1:c.311-115870G>A	ENSP00000491434.1:n.311-115870G>A
ENST00000640243.1:c.951+98828G>A	ENSP00000492803.1:n.951+98828G>A
ENST00000640522.1:c.1032+98747G>A	ENSP00000491019.1:n.1032+98747G>A
ENST00000640528.1:c.985G>A	ENSP00000491725.1:p.Val329Ile
ENST00000640566.1:c.311-144492G>A	ENSP00000491302.1:n.311-144492G>A
ENST00000640710.1:c.985G>A	ENSP00000492513.1:p.Val329Ile
ENST00000640890.1:n.1087G>A
ENST00000271751.8:c.1066G>A	ENSP00000271751.4:p.Val356Ile
ENST00000367007.4:c.985G>A	ENSP00000355974.4:p.Val329Ile
NM_002238.3:c.985G>A	NP_002229.1:p.Val329Ile
NM_172362.2:c.1066G>A	NP_758872.1:p.Val356Ile
XM_011509514.1:c.-111G>A	XP_011507816.1:n.-111G>A
XM_017001246.1:c.-111G>A	XP_016856735.1:n.-111G>A
NM_172362.3:c.1066G>A MANE Select	NP_758872.1:p.Val356Ile
NM_002238.4:c.985G>A	NP_002229.1:p.Val329Ile