Canonical Allele Identifier: CA1379864

Gene: KCNH1

Linked Data

• dbSNP Id: rs769381970
• ExAC: 1:210977455 A / C
• gnomAD v2: 1-210977455-A-C
• gnomAD v4: 1-210804113-A-C
• MyVariant Identifiers: chr1:g.210977455A>C (hg19) ; chr1:g.210804113A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210804113A>C , CM000663.2:g.210804113A>C	GRCh38
NC_000001.10:g.210977455A>C , CM000663.1:g.210977455A>C	GRCh37
NC_000001.9:g.209044078A>C	NCBI36
NG_029777.1:g.335003T>G
NG_029777.2:g.335003T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1516T>G MANE Select	ENSP00000271751.4:p.Tyr506Asp
ENST00000367007.5:c.1435T>G	ENSP00000355974.5:p.Tyr479Asp
ENST00000638357.1:c.849T>G
ENST00000638498.1:c.1516T>G	ENSP00000490983.1:p.Tyr506Asp
ENST00000638960.1:c.1435T>G	ENSP00000492302.1:p.Tyr479Asp
ENST00000639952.1:c.1435T>G	ENSP00000492697.1:p.Tyr479Asp
ENST00000640044.1:c.364T>G	ENSP00000491434.1:p.Tyr122Asp
ENST00000640243.1:c.*21T>G	ENSP00000492803.1:n.*21T>G
ENST00000640522.1:c.*21T>G	ENSP00000491019.1:n.*21T>G
ENST00000640528.1:c.1435T>G	ENSP00000491725.1:p.Tyr479Asp
ENST00000640566.1:c.311-28569T>G	ENSP00000491302.1:n.311-28569T>G
ENST00000640710.1:c.1435T>G	ENSP00000492513.1:p.Tyr479Asp
ENST00000271751.8:c.1516T>G	ENSP00000271751.4:p.Tyr506Asp
ENST00000367007.4:c.1435T>G	ENSP00000355974.4:p.Tyr479Asp
NM_002238.3:c.1435T>G	NP_002229.1:p.Tyr479Asp
NM_172362.2:c.1516T>G	NP_758872.1:p.Tyr506Asp
XM_011509514.1:c.340T>G	XP_011507816.1:p.Tyr114Asp
XM_017001246.1:c.340T>G	XP_016856735.1:p.Tyr114Asp
NM_172362.3:c.1516T>G MANE Select	NP_758872.1:p.Tyr506Asp
NM_002238.4:c.1435T>G	NP_002229.1:p.Tyr479Asp