Canonical Allele Identifier: CA369852808

Gene: KCNH2

Linked Data

• dbSNP Id: rs1301654815
• gnomAD v2: 7-150644518-G-A
• gnomAD v4: 7-150947430-G-A
• MyVariant Identifiers: chr7:g.150644518G>A (hg19) ; chr7:g.150947430G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947430G>A , CM000669.2:g.150947430G>A	GRCh38
NC_000007.13:g.150644518G>A , CM000669.1:g.150644518G>A	GRCh37
NC_000007.12:g.150275451G>A	NCBI36
NG_008916.1:g.35497C>T , LRG_288:g.35497C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3883C>T
ENST00000262186.10:c.3050C>T MANE Select	ENSP00000262186.5:p.Ala1017Val
ENST00000330883.9:c.2030C>T	ENSP00000328531.4:p.Ala677Val
ENST00000262186.9:c.3050C>T	ENSP00000262186.5:p.Ala1017Val
ENST00000330883.8:c.2030C>T	ENSP00000328531.4:p.Ala677Val
NM_000238.3:c.3050C>T , LRG_288t1:c.3050C>T	NP_000229.1:p.Ala1017Val
NM_172057.2:c.2030C>T , LRG_288t3:c.2030C>T	NP_742054.1:p.Ala677Val
XM_011516185.1:c.2750C>T	XP_011514487.1:p.Ala917Val
XM_011516186.1:c.*130C>T	XP_011514488.1:n.*130C>T
XM_011516185.2:c.2750C>T	XP_011514487.1:p.Ala917Val
XM_011516186.3:c.*130C>T	XP_011514488.1:n.*130C>T
XM_017012195.1:c.2900C>T	XP_016867684.1:p.Ala967Val
XM_017012196.1:c.2873C>T	XP_016867685.1:p.Ala958Val
NM_000238.4:c.3050C>T MANE Select	NP_000229.1:p.Ala1017Val
NM_172057.3:c.2030C>T	NP_742054.1:p.Ala677Val