Canonical Allele Identifier: CA369851480

Gene: KCNH2

Linked Data

• dbSNP Id: rs1344656004
• gnomAD v2: 7-150642527-G-T
• gnomAD v4: 7-150945439-G-T
• COSMIC: COSM1211472
• MyVariant Identifiers: chr7:g.150642527G>T (hg19) ; chr7:g.150945439G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945439G>T , CM000669.2:g.150945439G>T	GRCh38
NC_000007.13:g.150642527G>T , CM000669.1:g.150642527G>T	GRCh37
NC_000007.12:g.150273460G>T	NCBI36
NG_008916.1:g.37488C>A , LRG_288:g.37488C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4239C>A
ENST00000262186.10:c.3406C>A MANE Select	ENSP00000262186.5:p.Leu1136Ile
ENST00000330883.9:c.2386C>A	ENSP00000328531.4:p.Leu796Ile
ENST00000262186.9:c.3406C>A	ENSP00000262186.5:p.Leu1136Ile
ENST00000330883.8:c.2386C>A	ENSP00000328531.4:p.Leu796Ile
NM_000238.3:c.3406C>A , LRG_288t1:c.3406C>A	NP_000229.1:p.Leu1136Ile
NM_172057.2:c.2386C>A , LRG_288t3:c.2386C>A	NP_742054.1:p.Leu796Ile
XM_011516185.1:c.3106C>A	XP_011514487.1:p.Leu1036Ile
XM_011516185.2:c.3106C>A	XP_011514487.1:p.Leu1036Ile
XM_017012195.1:c.3256C>A	XP_016867684.1:p.Leu1086Ile
XM_017012196.1:c.3229C>A	XP_016867685.1:p.Leu1077Ile
NM_000238.4:c.3406C>A MANE Select	NP_000229.1:p.Leu1136Ile
NM_172057.3:c.2386C>A	NP_742054.1:p.Leu796Ile