Canonical Allele Identifier: CA37124804
Gene: KCNH1 HGNC NCBI

Linked Data

dbSNP Id: rs920031395

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.210804387T>G , CM000663.2:g.210804387T>G GRCh38
NC_000001.10:g.210977729T>G , CM000663.1:g.210977729T>G GRCh37
NC_000001.9:g.209044352T>G NCBI36
NG_029777.1:g.334729A>C
NG_029777.2:g.334729A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271751.10:c.1463-221A>C MANE Select ENSP00000271751.4:n.1463-221A>C
ENST00000367007.5:c.1382-221A>C ENSP00000355974.5:n.1382-221A>C
ENST00000638357.1:c.796-221A>C
ENST00000638498.1:c.1463-221A>C ENSP00000490983.1:n.1463-221A>C
ENST00000638960.1:c.1382-221A>C ENSP00000492302.1:n.1382-221A>C
ENST00000639952.1:c.1382-221A>C ENSP00000492697.1:n.1382-221A>C
ENST00000640044.1:c.311-221A>C ENSP00000491434.1:n.311-221A>C
ENST00000640243.1:c.952-221A>C ENSP00000492803.1:n.952-221A>C
ENST00000640522.1:c.1033-221A>C ENSP00000491019.1:n.1033-221A>C
ENST00000640528.1:c.1382-221A>C ENSP00000491725.1:n.1382-221A>C
ENST00000640566.1:c.311-28843A>C ENSP00000491302.1:n.311-28843A>C
ENST00000640710.1:c.1382-221A>C ENSP00000492513.1:n.1382-221A>C
ENST00000271751.8:c.1463-221A>C ENSP00000271751.4:n.1463-221A>C
ENST00000367007.4:c.1382-221A>C ENSP00000355974.4:n.1382-221A>C
NM_002238.3:c.1382-221A>C NP_002229.1:n.1382-221A>C
NM_172362.2:c.1463-221A>C NP_758872.1:n.1463-221A>C
XM_011509514.1:c.287-221A>C XP_011507816.1:n.287-221A>C
XM_017001246.1:c.287-221A>C XP_016856735.1:n.287-221A>C
NM_172362.3:c.1463-221A>C MANE Select NP_758872.1:n.1463-221A>C
NM_002238.4:c.1382-221A>C NP_002229.1:n.1382-221A>C