Canonical Allele Identifier: CA344874243

Gene: KCNH1

Linked Data

• MyVariant Identifiers: chr1:g.211093390A>G (hg19) ; chr1:g.210920048A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210920048A>G , CM000663.2:g.210920048A>G	GRCh38
NC_000001.10:g.211093390A>G , CM000663.1:g.211093390A>G	GRCh37
NC_000001.9:g.209160013A>G	NCBI36
NG_029777.1:g.219068T>C
NG_029777.2:g.219068T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000271751.10:c.1054T>C MANE Select	ENSP00000271751.4:p.Ser352Pro
ENST00000367007.5:c.973T>C	ENSP00000355974.5:p.Ser325Pro
ENST00000638357.1:c.387T>C
ENST00000638498.1:c.1054T>C	ENSP00000490983.1:p.Ser352Pro
ENST00000638960.1:c.973T>C	ENSP00000492302.1:p.Ser325Pro
ENST00000638983.1:c.952-58854T>C	ENSP00000492641.1:n.952-58854T>C
ENST00000639385.1:n.422T>C
ENST00000639602.1:c.844T>C	ENSP00000492303.1:p.Ser282Pro
ENST00000639754.1:n.1257T>C
ENST00000639952.1:c.973T>C	ENSP00000492697.1:p.Ser325Pro
ENST00000640044.1:c.311-115882T>C	ENSP00000491434.1:n.311-115882T>C
ENST00000640243.1:c.951+98816T>C	ENSP00000492803.1:n.951+98816T>C
ENST00000640522.1:c.1032+98735T>C	ENSP00000491019.1:n.1032+98735T>C
ENST00000640528.1:c.973T>C	ENSP00000491725.1:p.Ser325Pro
ENST00000640566.1:c.311-144504T>C	ENSP00000491302.1:n.311-144504T>C
ENST00000640710.1:c.973T>C	ENSP00000492513.1:p.Ser325Pro
ENST00000640890.1:n.1075T>C
ENST00000271751.8:c.1054T>C	ENSP00000271751.4:p.Ser352Pro
ENST00000367007.4:c.973T>C	ENSP00000355974.4:p.Ser325Pro
NM_002238.3:c.973T>C	NP_002229.1:p.Ser325Pro
NM_172362.2:c.1054T>C	NP_758872.1:p.Ser352Pro
XM_011509514.1:c.-123T>C	XP_011507816.1:n.-123T>C
XM_017001246.1:c.-123T>C	XP_016856735.1:n.-123T>C
NM_172362.3:c.1054T>C MANE Select	NP_758872.1:p.Ser352Pro
NM_002238.4:c.973T>C	NP_002229.1:p.Ser325Pro