Canonical Allele Identifier: CA2685610403

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150959822-T-TGGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959824_150959825insACGG , CM000669.2:g.150959824_150959825insACGG	GRCh38
NC_000007.13:g.150656912_150656913insACGG , CM000669.1:g.150656912_150656913insACGG	GRCh37
NC_000007.12:g.150287845_150287846insACGG	NCBI36
NG_008916.1:g.23104_23105insGTCC , LRG_288:g.23104_23105insGTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1054_1055insGTCC
ENST00000262186.10:c.308-87_308-86insGTCC MANE Select	ENSP00000262186.5:n.308-87_308-86insGTCC
ENST00000262186.9:c.308-87_308-86insGTCC	ENSP00000262186.5:n.308-87_308-86insGTCC
ENST00000430723.4:c.131-87_131-86insGTCC	ENSP00000387657.4:n.131-87_131-86insGTCC
ENST00000532957.5:n.531-87_531-86insGTCC
NM_000238.3:c.308-87_308-86insGTCC , LRG_288t1:c.308-87_308-86insGTCC	NP_000229.1:n.308-87_308-86insGTCC
NM_172056.2:c.308-87_308-86insGTCC , LRG_288t2:c.308-87_308-86insGTCC	NP_742053.1:n.308-87_308-86insGTCC
XM_011516185.1:c.8-87_8-86insGTCC	XP_011514487.1:n.8-87_8-86insGTCC
XM_011516186.1:c.308-87_308-86insGTCC	XP_011514488.1:n.308-87_308-86insGTCC
XM_011516185.2:c.8-87_8-86insGTCC	XP_011514487.1:n.8-87_8-86insGTCC
XM_011516186.3:c.308-87_308-86insGTCC	XP_011514488.1:n.308-87_308-86insGTCC
XM_017012195.1:c.158-87_158-86insGTCC	XP_016867684.1:n.158-87_158-86insGTCC
XM_017012196.1:c.131-87_131-86insGTCC	XP_016867685.1:n.131-87_131-86insGTCC
NM_000238.4:c.308-87_308-86insGTCC MANE Select	NP_000229.1:n.308-87_308-86insGTCC