Canonical Allele Identifier: CA458644526

Gene: KCNH2

Linked Data

• dbSNP Id: rs1328867724
• gnomAD v4: 7-150945407-G-A
• MyVariant Identifiers: chr7:g.150642495G>A (hg19) ; chr7:g.150945407G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945407G>A , CM000669.2:g.150945407G>A	GRCh38
NC_000007.13:g.150642495G>A , CM000669.1:g.150642495G>A	GRCh37
NC_000007.12:g.150273428G>A	NCBI36
NG_008916.1:g.37520C>T , LRG_288:g.37520C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4271C>T
ENST00000262186.10:c.3438C>T MANE Select	ENSP00000262186.5:p.Thr1146=
ENST00000330883.9:c.2418C>T	ENSP00000328531.4:p.Thr806=
ENST00000262186.9:c.3438C>T	ENSP00000262186.5:p.Thr1146=
ENST00000330883.8:c.2418C>T	ENSP00000328531.4:p.Thr806=
NM_000238.3:c.3438C>T , LRG_288t1:c.3438C>T	NP_000229.1:p.Thr1146=
NM_172057.2:c.2418C>T , LRG_288t3:c.2418C>T	NP_742054.1:p.Thr806=
XM_011516185.1:c.3138C>T	XP_011514487.1:p.Thr1046=
XM_011516185.2:c.3138C>T	XP_011514487.1:p.Thr1046=
XM_017012195.1:c.3288C>T	XP_016867684.1:p.Thr1096=
XM_017012196.1:c.3261C>T	XP_016867685.1:p.Thr1087=
NM_000238.4:c.3438C>T MANE Select	NP_000229.1:p.Thr1146=
NM_172057.3:c.2418C>T	NP_742054.1:p.Thr806=