Canonical Allele Identifier: CA344874591

Gene: KCNH1

Linked Data

• gnomAD v4: 1-210804157-T-C
• MyVariant Identifiers: chr1:g.210977499T>C (hg19) ; chr1:g.210804157T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1472A>G MANE Select	ENSP00000271751.4:p.Tyr491Cys
ENST00000367007.5:c.1391A>G	ENSP00000355974.5:p.Tyr464Cys
ENST00000638357.1:c.805A>G
ENST00000638498.1:c.1472A>G	ENSP00000490983.1:p.Tyr491Cys
ENST00000638960.1:c.1391A>G	ENSP00000492302.1:p.Tyr464Cys
ENST00000639952.1:c.1391A>G	ENSP00000492697.1:p.Tyr464Cys
ENST00000640044.1:c.320A>G	ENSP00000491434.1:p.Tyr107Cys
ENST00000640243.1:c.961A>G	ENSP00000492803.1:p.Met321Val
ENST00000640522.1:c.1042A>G	ENSP00000491019.1:p.Met348Val
ENST00000640528.1:c.1391A>G	ENSP00000491725.1:p.Tyr464Cys
ENST00000640566.1:c.311-28613A>G	ENSP00000491302.1:n.311-28613A>G
ENST00000640710.1:c.1391A>G	ENSP00000492513.1:p.Tyr464Cys
ENST00000271751.8:c.1472A>G	ENSP00000271751.4:p.Tyr491Cys
ENST00000367007.4:c.1391A>G	ENSP00000355974.4:p.Tyr464Cys
NM_002238.3:c.1391A>G	NP_002229.1:p.Tyr464Cys
NM_172362.2:c.1472A>G	NP_758872.1:p.Tyr491Cys
XM_011509514.1:c.296A>G	XP_011507816.1:p.Tyr99Cys
XM_017001246.1:c.296A>G	XP_016856735.1:p.Tyr99Cys
NM_172362.3:c.1472A>G MANE Select	NP_758872.1:p.Tyr491Cys
NM_002238.4:c.1391A>G	NP_002229.1:p.Tyr464Cys