Canonical Allele Identifier: CA12601058
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs748693

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974349A>G , CM000669.2:g.150974349A>G GRCh38
NC_000007.13:g.150671437A>G , CM000669.1:g.150671437A>G GRCh37
NC_000007.12:g.150302370A>G NCBI36
NG_008916.1:g.8578T>C , LRG_288:g.8578T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.307+362T>C MANE Select ENSP00000262186.5:n.307+362T>C
ENST00000262186.9:c.307+362T>C ENSP00000262186.5:n.307+362T>C
ENST00000430723.4:c.130+362T>C ENSP00000387657.4:n.130+362T>C
ENST00000532957.5:n.530+362T>C
NM_000238.3:c.307+362T>C , LRG_288t1:c.307+362T>C NP_000229.1:n.307+362T>C
NM_172056.2:c.307+362T>C , LRG_288t2:c.307+362T>C NP_742053.1:n.307+362T>C
XM_011516185.1:c.7+21T>C XP_011514487.1:n.7+21T>C
XM_011516186.1:c.307+362T>C XP_011514488.1:n.307+362T>C
XM_011516185.2:c.7+21T>C XP_011514487.1:n.7+21T>C
XM_011516186.3:c.307+362T>C XP_011514488.1:n.307+362T>C
XM_017012196.1:c.130+362T>C XP_016867685.1:n.130+362T>C
NM_000238.4:c.307+362T>C MANE Select NP_000229.1:n.307+362T>C