Canonical Allele Identifier: CA344874590

Gene: KCNH1

Linked Data

• MyVariant Identifiers: chr1:g.210977499T>A (hg19) ; chr1:g.210804157T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210804157T>A , CM000663.2:g.210804157T>A	GRCh38
NC_000001.10:g.210977499T>A , CM000663.1:g.210977499T>A	GRCh37
NC_000001.9:g.209044122T>A	NCBI36
NG_029777.1:g.334959A>T
NG_029777.2:g.334959A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1472A>T MANE Select	ENSP00000271751.4:p.Tyr491Phe
ENST00000367007.5:c.1391A>T	ENSP00000355974.5:p.Tyr464Phe
ENST00000638357.1:c.805A>T
ENST00000638498.1:c.1472A>T	ENSP00000490983.1:p.Tyr491Phe
ENST00000638960.1:c.1391A>T	ENSP00000492302.1:p.Tyr464Phe
ENST00000639952.1:c.1391A>T	ENSP00000492697.1:p.Tyr464Phe
ENST00000640044.1:c.320A>T	ENSP00000491434.1:p.Tyr107Phe
ENST00000640243.1:c.961A>T	ENSP00000492803.1:p.Met321Leu
ENST00000640522.1:c.1042A>T	ENSP00000491019.1:p.Met348Leu
ENST00000640528.1:c.1391A>T	ENSP00000491725.1:p.Tyr464Phe
ENST00000640566.1:c.311-28613A>T	ENSP00000491302.1:n.311-28613A>T
ENST00000640710.1:c.1391A>T	ENSP00000492513.1:p.Tyr464Phe
ENST00000271751.8:c.1472A>T	ENSP00000271751.4:p.Tyr491Phe
ENST00000367007.4:c.1391A>T	ENSP00000355974.4:p.Tyr464Phe
NM_002238.3:c.1391A>T	NP_002229.1:p.Tyr464Phe
NM_172362.2:c.1472A>T	NP_758872.1:p.Tyr491Phe
XM_011509514.1:c.296A>T	XP_011507816.1:p.Tyr99Phe
XM_017001246.1:c.296A>T	XP_016856735.1:p.Tyr99Phe
NM_172362.3:c.1472A>T MANE Select	NP_758872.1:p.Tyr491Phe
NM_002238.4:c.1391A>T	NP_002229.1:p.Tyr464Phe