Canonical Allele Identifier: CA039563

Gene: KCNH2

Linked Data

• dbSNP Id: rs757935770
• ExAC: 7:150656673 G / A
• gnomAD v2: 7-150656673-G-A
• gnomAD v4: 7-150959585-G-A
• MyVariant Identifiers: chr7:g.150656673G>A (hg19) ; chr7:g.150959585G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959585G>A , CM000669.2:g.150959585G>A	GRCh38
NC_000007.13:g.150656673G>A , CM000669.1:g.150656673G>A	GRCh37
NC_000007.12:g.150287606G>A	NCBI36
NG_008916.1:g.23342C>T , LRG_288:g.23342C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1292C>T
ENST00000262186.10:c.459C>T MANE Select	ENSP00000262186.5:p.Ser153=
ENST00000262186.9:c.459C>T	ENSP00000262186.5:p.Ser153=
ENST00000430723.4:c.234+48C>T	ENSP00000387657.4:n.234+48C>T
ENST00000532957.5:n.682C>T
NM_000238.3:c.459C>T , LRG_288t1:c.459C>T	NP_000229.1:p.Ser153=
NM_172056.2:c.459C>T , LRG_288t2:c.459C>T	NP_742053.1:p.Ser153=
XM_011516185.1:c.159C>T	XP_011514487.1:p.Ser53=
XM_011516186.1:c.459C>T	XP_011514488.1:p.Ser153=
XM_011516185.2:c.159C>T	XP_011514487.1:p.Ser53=
XM_011516186.3:c.459C>T	XP_011514488.1:p.Ser153=
XM_017012195.1:c.309C>T	XP_016867684.1:p.Ser103=
XM_017012196.1:c.282C>T	XP_016867685.1:p.Ser94=
NM_000238.4:c.459C>T MANE Select	NP_000229.1:p.Ser153=