Canonical Allele Identifier: CA369851420

Gene: KCNH2

Linked Data

• dbSNP Id: rs1306797188
• gnomAD v2: 7-150642496-G-A
• gnomAD v3: 7-150945408-G-A
• gnomAD v4: 7-150945408-G-A
• MyVariant Identifiers: chr7:g.150642496G>A (hg19) ; chr7:g.150945408G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945408G>A , CM000669.2:g.150945408G>A	GRCh38
NC_000007.13:g.150642496G>A , CM000669.1:g.150642496G>A	GRCh37
NC_000007.12:g.150273429G>A	NCBI36
NG_008916.1:g.37519C>T , LRG_288:g.37519C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4270C>T
ENST00000262186.10:c.3437C>T MANE Select	ENSP00000262186.5:p.Thr1146Ile
ENST00000330883.9:c.2417C>T	ENSP00000328531.4:p.Thr806Ile
ENST00000262186.9:c.3437C>T	ENSP00000262186.5:p.Thr1146Ile
ENST00000330883.8:c.2417C>T	ENSP00000328531.4:p.Thr806Ile
NM_000238.3:c.3437C>T , LRG_288t1:c.3437C>T	NP_000229.1:p.Thr1146Ile
NM_172057.2:c.2417C>T , LRG_288t3:c.2417C>T	NP_742054.1:p.Thr806Ile
XM_011516185.1:c.3137C>T	XP_011514487.1:p.Thr1046Ile
XM_011516185.2:c.3137C>T	XP_011514487.1:p.Thr1046Ile
XM_017012195.1:c.3287C>T	XP_016867684.1:p.Thr1096Ile
XM_017012196.1:c.3260C>T	XP_016867685.1:p.Thr1087Ile
NM_000238.4:c.3437C>T MANE Select	NP_000229.1:p.Thr1146Ile
NM_172057.3:c.2417C>T	NP_742054.1:p.Thr806Ile