Canonical Allele Identifier: CA369852309

Gene: KCNH2

Linked Data

• dbSNP Id: rs139722868
• gnomAD v2: 7-150644108-C-T
• gnomAD v4: 7-150947020-C-T
• MyVariant Identifiers: chr7:g.150644108C>T (hg19) ; chr7:g.150947020C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947020C>T , CM000669.2:g.150947020C>T	GRCh38
NC_000007.13:g.150644108C>T , CM000669.1:g.150644108C>T	GRCh37
NC_000007.12:g.150275041C>T	NCBI36
NG_008916.1:g.35907G>A , LRG_288:g.35907G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.4020G>A
ENST00000262186.10:c.3187G>A MANE Select	ENSP00000262186.5:p.Val1063Ile
ENST00000330883.9:c.2167G>A	ENSP00000328531.4:p.Val723Ile
ENST00000262186.9:c.3187G>A	ENSP00000262186.5:p.Val1063Ile
ENST00000330883.8:c.2167G>A	ENSP00000328531.4:p.Val723Ile
NM_000238.3:c.3187G>A , LRG_288t1:c.3187G>A	NP_000229.1:p.Val1063Ile
NM_172057.2:c.2167G>A , LRG_288t3:c.2167G>A	NP_742054.1:p.Val723Ile
XM_011516185.1:c.2887G>A	XP_011514487.1:p.Val963Ile
XM_011516185.2:c.2887G>A	XP_011514487.1:p.Val963Ile
XM_017012195.1:c.3037G>A	XP_016867684.1:p.Val1013Ile
XM_017012196.1:c.3010G>A	XP_016867685.1:p.Val1004Ile
NM_000238.4:c.3187G>A MANE Select	NP_000229.1:p.Val1063Ile
NM_172057.3:c.2167G>A	NP_742054.1:p.Val723Ile