Canonical Allele Identifier: CA344876158

Gene: KCNH1

Linked Data

• MyVariant Identifiers: chr1:g.211192415C>A (hg19) ; chr1:g.211019073C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211019073C>A , CM000663.2:g.211019073C>A	GRCh38
NC_000001.10:g.211192415C>A , CM000663.1:g.211192415C>A	GRCh37
NC_000001.9:g.209259038C>A	NCBI36
NG_029777.1:g.120043G>T
NG_029777.2:g.120043G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000271751.10:c.742G>T MANE Select	ENSP00000271751.4:p.Val248Leu
ENST00000367007.5:c.742G>T	ENSP00000355974.5:p.Val248Leu
ENST00000638357.1:c.156G>T
ENST00000638498.1:c.742G>T	ENSP00000490983.1:p.Val248Leu
ENST00000638960.1:c.742G>T	ENSP00000492302.1:p.Val248Leu
ENST00000638983.1:c.742G>T	ENSP00000492641.1:p.Val248Leu
ENST00000639385.1:n.118G>T
ENST00000639602.1:c.613G>T	ENSP00000492303.1:p.Val205Leu
ENST00000639754.1:n.945G>T
ENST00000639952.1:c.742G>T	ENSP00000492697.1:p.Val248Leu
ENST00000640044.1:c.310+84423G>T	ENSP00000491434.1:n.310+84423G>T
ENST00000640243.1:c.742G>T	ENSP00000492803.1:p.Val248Leu
ENST00000640522.1:c.742G>T	ENSP00000491019.1:p.Val248Leu
ENST00000640528.1:c.742G>T	ENSP00000491725.1:p.Val248Leu
ENST00000640566.1:c.310+84423G>T	ENSP00000491302.1:n.310+84423G>T
ENST00000640710.1:c.742G>T	ENSP00000492513.1:p.Val248Leu
ENST00000640890.1:n.844G>T
ENST00000271751.8:c.742G>T	ENSP00000271751.4:p.Val248Leu
ENST00000367007.4:c.742G>T	ENSP00000355974.4:p.Val248Leu
NM_002238.3:c.742G>T	NP_002229.1:p.Val248Leu
NM_172362.2:c.742G>T	NP_758872.1:p.Val248Leu
NM_172362.3:c.742G>T MANE Select	NP_758872.1:p.Val248Leu
NM_002238.4:c.742G>T	NP_002229.1:p.Val248Leu