Canonical Allele Identifier: CA1379900

Gene: KCNH1

Linked Data

• ClinVar Variation Id: 2086067
• ClinVar RCV Id: RCV003005445
• dbSNP Id: rs536422151
• ExAC: 1:211093181 T / G
• gnomAD v2: 1-211093181-T-G
• gnomAD v3: 1-210919839-T-G
• gnomAD v4: 1-210919839-T-G
• MyVariant Identifiers: chr1:g.211093181T>G (hg19) ; chr1:g.210919839T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210919839T>G , CM000663.2:g.210919839T>G	GRCh38
NC_000001.10:g.211093181T>G , CM000663.1:g.211093181T>G	GRCh37
NC_000001.9:g.209159804T>G	NCBI36
NG_029777.1:g.219277A>C
NG_029777.2:g.219277A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1263A>C MANE Select	ENSP00000271751.4:p.Gln421His
ENST00000367007.5:c.1182A>C	ENSP00000355974.5:p.Gln394His
ENST00000638357.1:c.596A>C
ENST00000638498.1:c.1263A>C	ENSP00000490983.1:p.Gln421His
ENST00000638960.1:c.1182A>C	ENSP00000492302.1:p.Gln394His
ENST00000638983.1:c.952-58645A>C	ENSP00000492641.1:n.952-58645A>C
ENST00000639385.1:n.631A>C
ENST00000639602.1:c.1053A>C	ENSP00000492303.1:p.Gln351His
ENST00000639754.1:n.1466A>C
ENST00000639952.1:c.1182A>C	ENSP00000492697.1:p.Gln394His
ENST00000640044.1:c.311-115673A>C	ENSP00000491434.1:n.311-115673A>C
ENST00000640243.1:c.951+99025A>C	ENSP00000492803.1:n.951+99025A>C
ENST00000640522.1:c.1032+98944A>C	ENSP00000491019.1:n.1032+98944A>C
ENST00000640528.1:c.1182A>C	ENSP00000491725.1:p.Gln394His
ENST00000640566.1:c.311-144295A>C	ENSP00000491302.1:n.311-144295A>C
ENST00000640710.1:c.1182A>C	ENSP00000492513.1:p.Gln394His
ENST00000640890.1:n.1284A>C
ENST00000271751.8:c.1263A>C	ENSP00000271751.4:p.Gln421His
ENST00000367007.4:c.1182A>C	ENSP00000355974.4:p.Gln394His
NM_002238.3:c.1182A>C	NP_002229.1:p.Gln394His
NM_172362.2:c.1263A>C	NP_758872.1:p.Gln421His
XM_011509514.1:c.87A>C	XP_011507816.1:p.Gln29His
XM_017001246.1:c.87A>C	XP_016856735.1:p.Gln29His
NM_172362.3:c.1263A>C MANE Select	NP_758872.1:p.Gln421His
NM_002238.4:c.1182A>C	NP_002229.1:p.Gln394His