Canonical Allele Identifier: CA458870784

Gene: KCNH2

Linked Data

• dbSNP Id: rs1256437997
• gnomAD v3: 7-150947625-G-A
• gnomAD v4: 7-150947625-G-A
• MyVariant Identifiers: chr7:g.150644713G>A (hg19) ; chr7:g.150947625G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947625G>A , CM000669.2:g.150947625G>A	GRCh38
NC_000007.13:g.150644713G>A , CM000669.1:g.150644713G>A	GRCh37
NC_000007.12:g.150275646G>A	NCBI36
NG_008916.1:g.35302C>T , LRG_288:g.35302C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3779C>T
ENST00000262186.10:c.2946C>T MANE Select	ENSP00000262186.5:p.Asp982=
ENST00000330883.9:c.1926C>T	ENSP00000328531.4:p.Asp642=
ENST00000262186.9:c.2946C>T	ENSP00000262186.5:p.Asp982=
ENST00000330883.8:c.1926C>T	ENSP00000328531.4:p.Asp642=
NM_000238.3:c.2946C>T , LRG_288t1:c.2946C>T	NP_000229.1:p.Asp982=
NM_172057.2:c.1926C>T , LRG_288t3:c.1926C>T	NP_742054.1:p.Asp642=
XM_011516185.1:c.2646C>T	XP_011514487.1:p.Asp882=
XM_011516186.1:c.*26C>T	XP_011514488.1:n.*26C>T
XM_011516185.2:c.2646C>T	XP_011514487.1:p.Asp882=
XM_011516186.3:c.*26C>T	XP_011514488.1:n.*26C>T
XM_017012195.1:c.2796C>T	XP_016867684.1:p.Asp932=
XM_017012196.1:c.2769C>T	XP_016867685.1:p.Asp923=
NM_000238.4:c.2946C>T MANE Select	NP_000229.1:p.Asp982=
NM_172057.3:c.1926C>T	NP_742054.1:p.Asp642=