Canonical Allele Identifier: CA1752428339
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947319C= , CM000669.2:g.150947319C= GRCh38
NC_000007.13:g.150644407C= , CM000669.1:g.150644407C= GRCh37
NC_000007.12:g.150275340C= NCBI36
NG_008916.1:g.35608G= , LRG_288:g.35608G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3985+9G=
ENST00000262186.10:c.3152+9G= MANE Select ENSP00000262186.5:n.3152+9G=
ENST00000330883.9:c.2132+9G= ENSP00000328531.4:n.2132+9G=
ENST00000262186.9:c.3152+9G= ENSP00000262186.5:n.3152+9G=
ENST00000330883.8:c.2132+9G= ENSP00000328531.4:n.2132+9G=
NM_000238.3:c.3152+9G= , LRG_288t1:c.3152+9G= NP_000229.1:n.3152+9G=
NM_172057.2:c.2132+9G= , LRG_288t3:c.2132+9G= NP_742054.1:n.2132+9G=
XM_011516185.1:c.2852+9G= XP_011514487.1:n.2852+9G=
XM_011516185.2:c.2852+9G= XP_011514487.1:n.2852+9G=
XM_017012195.1:c.3002+9G= XP_016867684.1:n.3002+9G=
XM_017012196.1:c.2975+9G= XP_016867685.1:n.2975+9G=
NM_000238.4:c.3152+9G= MANE Select NP_000229.1:n.3152+9G=
NM_172057.3:c.2132+9G= NP_742054.1:n.2132+9G=