Canonical Allele Identifier: CA369862970

Gene: KCNH2

Linked Data

• dbSNP Id: rs1171129234
• gnomAD v2: 7-150655413-G-A
• gnomAD v4: 7-150958325-G-A
• MyVariant Identifiers: chr7:g.150655413G>A (hg19) ; chr7:g.150958325G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958325G>A , CM000669.2:g.150958325G>A	GRCh38
NC_000007.13:g.150655413G>A , CM000669.1:g.150655413G>A	GRCh37
NC_000007.12:g.150286346G>A	NCBI36
NG_008916.1:g.24602C>T , LRG_288:g.24602C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1483C>T
ENST00000262186.10:c.650C>T MANE Select	ENSP00000262186.5:p.Ala217Val
ENST00000262186.9:c.650C>T	ENSP00000262186.5:p.Ala217Val
ENST00000430723.4:c.302C>T	ENSP00000387657.4:p.Ala101Val
ENST00000532957.5:n.873C>T
NM_000238.3:c.650C>T , LRG_288t1:c.650C>T	NP_000229.1:p.Ala217Val
NM_172056.2:c.650C>T , LRG_288t2:c.650C>T	NP_742053.1:p.Ala217Val
XM_011516185.1:c.350C>T	XP_011514487.1:p.Ala117Val
XM_011516186.1:c.650C>T	XP_011514488.1:p.Ala217Val
XM_011516185.2:c.350C>T	XP_011514487.1:p.Ala117Val
XM_011516186.3:c.650C>T	XP_011514488.1:p.Ala217Val
XM_017012195.1:c.500C>T	XP_016867684.1:p.Ala167Val
XM_017012196.1:c.473C>T	XP_016867685.1:p.Ala158Val
NM_000238.4:c.650C>T MANE Select	NP_000229.1:p.Ala217Val