Canonical Allele Identifier: CA1752428212
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947244G= , CM000669.2:g.150947244G= GRCh38
NC_000007.13:g.150644332G= , CM000669.1:g.150644332G= GRCh37
NC_000007.12:g.150275265G= NCBI36
NG_008916.1:g.35683C= , LRG_288:g.35683C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3985+84C=
ENST00000262186.10:c.3152+84C= MANE Select ENSP00000262186.5:n.3152+84C=
ENST00000330883.9:c.2132+84C= ENSP00000328531.4:n.2132+84C=
ENST00000262186.9:c.3152+84C= ENSP00000262186.5:n.3152+84C=
ENST00000330883.8:c.2132+84C= ENSP00000328531.4:n.2132+84C=
NM_000238.3:c.3152+84C= , LRG_288t1:c.3152+84C= NP_000229.1:n.3152+84C=
NM_172057.2:c.2132+84C= , LRG_288t3:c.2132+84C= NP_742054.1:n.2132+84C=
XM_011516185.1:c.2852+84C= XP_011514487.1:n.2852+84C=
XM_011516185.2:c.2852+84C= XP_011514487.1:n.2852+84C=
XM_017012195.1:c.3002+84C= XP_016867684.1:n.3002+84C=
XM_017012196.1:c.2975+84C= XP_016867685.1:n.2975+84C=
NM_000238.4:c.3152+84C= MANE Select NP_000229.1:n.3152+84C=
NM_172057.3:c.2132+84C= NP_742054.1:n.2132+84C=