Canonical Allele Identifier: CA1752417689
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958063G= , CM000669.2:g.150958063G= GRCh38
NC_000007.13:g.150655151G= , CM000669.1:g.150655151G= GRCh37
NC_000007.12:g.150286084G= NCBI36
NG_008916.1:g.24864C= , LRG_288:g.24864C=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1745C=
ENST00000262186.10:c.912C= MANE Select ENSP00000262186.5:p.Ser304=
ENST00000262186.9:c.912C= ENSP00000262186.5:p.Ser304=
ENST00000430723.4:c.564C= ENSP00000387657.4:p.Ser188=
ENST00000532957.5:n.1135C=
NM_000238.3:c.912C= , LRG_288t1:c.912C= NP_000229.1:p.Ser304=
NM_172056.2:c.912C= , LRG_288t2:c.912C= NP_742053.1:p.Ser304=
XM_011516185.1:c.612C= XP_011514487.1:p.Ser204=
XM_011516186.1:c.912C= XP_011514488.1:p.Ser304=
XM_011516185.2:c.612C= XP_011514487.1:p.Ser204=
XM_011516186.3:c.912C= XP_011514488.1:p.Ser304=
XM_017012195.1:c.762C= XP_016867684.1:p.Ser254=
XM_017012196.1:c.735C= XP_016867685.1:p.Ser245=
NM_000238.4:c.912C= MANE Select NP_000229.1:p.Ser304=