Canonical Allele Identifier: CA458647005
Gene: KCNH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.150656823C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150959735C>T , CM000669.2:g.150959735C>T GRCh38
NC_000007.13:g.150656823C>T , CM000669.1:g.150656823C>T GRCh37
NC_000007.12:g.150287756C>T NCBI36
NG_008916.1:g.23192G>A , LRG_288:g.23192G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1142G>A
ENST00000262186.10:c.309G>A MANE Select ENSP00000262186.5:p.Gly103=
ENST00000262186.9:c.309G>A ENSP00000262186.5:p.Gly103=
ENST00000430723.4:c.132G>A ENSP00000387657.4:p.Gly44=
ENST00000532957.5:n.532G>A
NM_000238.3:c.309G>A , LRG_288t1:c.309G>A NP_000229.1:p.Gly103=
NM_172056.2:c.309G>A , LRG_288t2:c.309G>A NP_742053.1:p.Gly103=
XM_011516185.1:c.9G>A XP_011514487.1:p.Gly3=
XM_011516186.1:c.309G>A XP_011514488.1:p.Gly103=
XM_011516185.2:c.9G>A XP_011514487.1:p.Gly3=
XM_011516186.3:c.309G>A XP_011514488.1:p.Gly103=
XM_017012195.1:c.159G>A XP_016867684.1:p.Gly53=
XM_017012196.1:c.132G>A XP_016867685.1:p.Gly44=
NM_000238.4:c.309G>A MANE Select NP_000229.1:p.Gly103=