Canonical Allele Identifier: CA344874609

Gene: KCNH1

Linked Data

• MyVariant Identifiers: chr1:g.210977508G>C (hg19) ; chr1:g.210804166G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210804166G>C , CM000663.2:g.210804166G>C	GRCh38
NC_000001.10:g.210977508G>C , CM000663.1:g.210977508G>C	GRCh37
NC_000001.9:g.209044131G>C	NCBI36
NG_029777.1:g.334950C>G
NG_029777.2:g.334950C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271751.10:c.1463C>G MANE Select	ENSP00000271751.4:p.Ser488Ter
ENST00000367007.5:c.1382C>G	ENSP00000355974.5:p.Ser461Ter
ENST00000638357.1:c.796C>G
ENST00000638498.1:c.1463C>G	ENSP00000490983.1:p.Ser488Ter
ENST00000638960.1:c.1382C>G	ENSP00000492302.1:p.Ser461Ter
ENST00000639952.1:c.1382C>G	ENSP00000492697.1:p.Ser461Ter
ENST00000640044.1:c.311C>G	ENSP00000491434.1:p.Thr104Arg
ENST00000640243.1:c.952C>G	ENSP00000492803.1:p.His318Asp
ENST00000640522.1:c.1033C>G	ENSP00000491019.1:p.His345Asp
ENST00000640528.1:c.1382C>G	ENSP00000491725.1:p.Ser461Ter
ENST00000640566.1:c.311-28622C>G	ENSP00000491302.1:n.311-28622C>G
ENST00000640710.1:c.1382C>G	ENSP00000492513.1:p.Ser461Ter
ENST00000271751.8:c.1463C>G	ENSP00000271751.4:p.Ser488Ter
ENST00000367007.4:c.1382C>G	ENSP00000355974.4:p.Ser461Ter
NM_002238.3:c.1382C>G	NP_002229.1:p.Ser461Ter
NM_172362.2:c.1463C>G	NP_758872.1:p.Ser488Ter
XM_011509514.1:c.287C>G	XP_011507816.1:p.Ser96Ter
XM_017001246.1:c.287C>G	XP_016856735.1:p.Ser96Ter
NM_172362.3:c.1463C>G MANE Select	NP_758872.1:p.Ser488Ter
NM_002238.4:c.1382C>G	NP_002229.1:p.Ser461Ter