Canonical Allele Identifier: CA369863375

Gene: KCNH2

Linked Data

• dbSNP Id: rs1189135004
• gnomAD v2: 7-150655522-G-A
• gnomAD v4: 7-150958434-G-A
• MyVariant Identifiers: chr7:g.150655522G>A (hg19) ; chr7:g.150958434G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958434G>A , CM000669.2:g.150958434G>A	GRCh38
NC_000007.13:g.150655522G>A , CM000669.1:g.150655522G>A	GRCh37
NC_000007.12:g.150286455G>A	NCBI36
NG_008916.1:g.24493C>T , LRG_288:g.24493C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1374C>T
ENST00000262186.10:c.541C>T MANE Select	ENSP00000262186.5:p.Arg181Trp
ENST00000262186.9:c.541C>T	ENSP00000262186.5:p.Arg181Trp
ENST00000430723.4:c.235-42C>T	ENSP00000387657.4:n.235-42C>T
ENST00000532957.5:n.764C>T
NM_000238.3:c.541C>T , LRG_288t1:c.541C>T	NP_000229.1:p.Arg181Trp
NM_172056.2:c.541C>T , LRG_288t2:c.541C>T	NP_742053.1:p.Arg181Trp
XM_011516185.1:c.241C>T	XP_011514487.1:p.Arg81Trp
XM_011516186.1:c.541C>T	XP_011514488.1:p.Arg181Trp
XM_011516185.2:c.241C>T	XP_011514487.1:p.Arg81Trp
XM_011516186.3:c.541C>T	XP_011514488.1:p.Arg181Trp
XM_017012195.1:c.391C>T	XP_016867684.1:p.Arg131Trp
XM_017012196.1:c.364C>T	XP_016867685.1:p.Arg122Trp
NM_000238.4:c.541C>T MANE Select	NP_000229.1:p.Arg181Trp