Canonical Allele Identifier: CA2685600183
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150945539A>G , CM000669.2:g.150945539A>G GRCh38
NC_000007.13:g.150642627A>G , CM000669.1:g.150642627A>G GRCh37
NC_000007.12:g.150273560A>G NCBI36
NG_008916.1:g.37388T>C , LRG_288:g.37388T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.4164-25T>C
ENST00000262186.10:c.3331-25T>C MANE Select ENSP00000262186.5:n.3331-25T>C
ENST00000330883.9:c.2311-25T>C ENSP00000328531.4:n.2311-25T>C
ENST00000262186.9:c.3331-25T>C ENSP00000262186.5:n.3331-25T>C
ENST00000330883.8:c.2311-25T>C ENSP00000328531.4:n.2311-25T>C
NM_000238.3:c.3331-25T>C , LRG_288t1:c.3331-25T>C NP_000229.1:n.3331-25T>C
NM_172057.2:c.2311-25T>C , LRG_288t3:c.2311-25T>C NP_742054.1:n.2311-25T>C
XM_011516185.1:c.3031-25T>C XP_011514487.1:n.3031-25T>C
XM_011516185.2:c.3031-25T>C XP_011514487.1:n.3031-25T>C
XM_017012195.1:c.3181-25T>C XP_016867684.1:n.3181-25T>C
XM_017012196.1:c.3154-25T>C XP_016867685.1:n.3154-25T>C
NM_000238.4:c.3331-25T>C MANE Select NP_000229.1:n.3331-25T>C
NM_172057.3:c.2311-25T>C NP_742054.1:n.2311-25T>C