Canonical Allele Identifier: CA038527
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs200181671

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150946846G>C , CM000669.2:g.150946846G>C GRCh38
NC_000007.13:g.150643934G>C , CM000669.1:g.150643934G>C GRCh37
NC_000007.12:g.150274867G>C NCBI36
NG_008916.1:g.36081C>G , LRG_288:g.36081C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.4163+31C>G
ENST00000262186.10:c.3330+31C>G MANE Select ENSP00000262186.5:n.3330+31C>G
ENST00000330883.9:c.2310+31C>G ENSP00000328531.4:n.2310+31C>G
ENST00000262186.9:c.3330+31C>G ENSP00000262186.5:n.3330+31C>G
ENST00000330883.8:c.2310+31C>G ENSP00000328531.4:n.2310+31C>G
NM_000238.3:c.3330+31C>G , LRG_288t1:c.3330+31C>G NP_000229.1:n.3330+31C>G
NM_172057.2:c.2310+31C>G , LRG_288t3:c.2310+31C>G NP_742054.1:n.2310+31C>G
XM_011516185.1:c.3030+31C>G XP_011514487.1:n.3030+31C>G
XM_011516185.2:c.3030+31C>G XP_011514487.1:n.3030+31C>G
XM_017012195.1:c.3180+31C>G XP_016867684.1:n.3180+31C>G
XM_017012196.1:c.3153+31C>G XP_016867685.1:n.3153+31C>G
NM_000238.4:c.3330+31C>G MANE Select NP_000229.1:n.3330+31C>G
NM_172057.3:c.2310+31C>G NP_742054.1:n.2310+31C>G