Canonical Allele Identifier: CA423111406

Gene: KCNH1

Linked Data

• dbSNP Id: rs1460192452
• gnomAD v2: 1-211093301-C-G
• gnomAD v4: 1-210919959-C-G
• MyVariant Identifiers: chr1:g.211093301C>G (hg19) ; chr1:g.210919959C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210919959C>G , CM000663.2:g.210919959C>G	GRCh38
NC_000001.10:g.211093301C>G , CM000663.1:g.211093301C>G	GRCh37
NC_000001.9:g.209159924C>G	NCBI36
NG_029777.1:g.219157G>C
NG_029777.2:g.219157G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1143G>C MANE Select	ENSP00000271751.4:p.Leu381=
ENST00000367007.5:c.1062G>C	ENSP00000355974.5:p.Leu354=
ENST00000638357.1:c.476G>C
ENST00000638498.1:c.1143G>C	ENSP00000490983.1:p.Leu381=
ENST00000638960.1:c.1062G>C	ENSP00000492302.1:p.Leu354=
ENST00000638983.1:c.952-58765G>C	ENSP00000492641.1:n.952-58765G>C
ENST00000639385.1:n.511G>C
ENST00000639602.1:c.933G>C	ENSP00000492303.1:p.Leu311=
ENST00000639754.1:n.1346G>C
ENST00000639952.1:c.1062G>C	ENSP00000492697.1:p.Leu354=
ENST00000640044.1:c.311-115793G>C	ENSP00000491434.1:n.311-115793G>C
ENST00000640243.1:c.951+98905G>C	ENSP00000492803.1:n.951+98905G>C
ENST00000640522.1:c.1032+98824G>C	ENSP00000491019.1:n.1032+98824G>C
ENST00000640528.1:c.1062G>C	ENSP00000491725.1:p.Leu354=
ENST00000640566.1:c.311-144415G>C	ENSP00000491302.1:n.311-144415G>C
ENST00000640710.1:c.1062G>C	ENSP00000492513.1:p.Leu354=
ENST00000640890.1:n.1164G>C
ENST00000271751.8:c.1143G>C	ENSP00000271751.4:p.Leu381=
ENST00000367007.4:c.1062G>C	ENSP00000355974.4:p.Leu354=
NM_002238.3:c.1062G>C	NP_002229.1:p.Leu354=
NM_172362.2:c.1143G>C	NP_758872.1:p.Leu381=
XM_011509514.1:c.-34G>C	XP_011507816.1:n.-34G>C
XM_017001246.1:c.-34G>C	XP_016856735.1:n.-34G>C
NM_172362.3:c.1143G>C MANE Select	NP_758872.1:p.Leu381=
NM_002238.4:c.1062G>C	NP_002229.1:p.Leu354=