Canonical Allele Identifier: CA16605724

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 377958
• ClinVar RCV Id: RCV000460101 ; RCV001705573 ; RCV001160954 ; RCV001841287 ; RCV002436247
• dbSNP Id: rs916754925
• gnomAD v2: 7-150644929-C-T
• gnomAD v3: 7-150947841-C-T
• gnomAD v4: 7-150947841-C-T
• MyVariant Identifiers: chr7:g.150644929C>T (hg19) ; chr7:g.150947841C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947841C>T , CM000669.2:g.150947841C>T	GRCh38
NC_000007.13:g.150644929C>T , CM000669.1:g.150644929C>T	GRCh37
NC_000007.12:g.150275862C>T	NCBI36
NG_008916.1:g.35086G>A , LRG_288:g.35086G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3563G>A
ENST00000262186.10:c.2730G>A MANE Select	ENSP00000262186.5:p.Pro910=
ENST00000330883.9:c.1710G>A	ENSP00000328531.4:p.Pro570=
ENST00000262186.9:c.2730G>A	ENSP00000262186.5:p.Pro910=
ENST00000330883.8:c.1710G>A	ENSP00000328531.4:p.Pro570=
NM_000238.3:c.2730G>A , LRG_288t1:c.2730G>A	NP_000229.1:p.Pro910=
NM_172057.2:c.1710G>A , LRG_288t3:c.1710G>A	NP_742054.1:p.Pro570=
XM_011516185.1:c.2430G>A	XP_011514487.1:p.Pro810=
XM_011516186.1:c.2693-150G>A	XP_011514488.1:n.2693-150G>A
XM_011516185.2:c.2430G>A	XP_011514487.1:p.Pro810=
XM_011516186.3:c.2693-150G>A	XP_011514488.1:n.2693-150G>A
XM_017012195.1:c.2580G>A	XP_016867684.1:p.Pro860=
XM_017012196.1:c.2553G>A	XP_016867685.1:p.Pro851=
NM_000238.4:c.2730G>A MANE Select	NP_000229.1:p.Pro910=
NM_172057.3:c.1710G>A	NP_742054.1:p.Pro570=