Canonical Allele Identifier: CA007420

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200499
• ClinVar RCV Id: RCV000631582 ; RCV003311707
• dbSNP Id: rs794728399
• gnomAD v4: 7-150947791-C-T
• MyVariant Identifiers: chr7:g.150644879C>T (hg19) ; chr7:g.150947791C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947791C>T , CM000669.2:g.150947791C>T	GRCh38
NC_000007.13:g.150644879C>T , CM000669.1:g.150644879C>T	GRCh37
NC_000007.12:g.150275812C>T	NCBI36
NG_008916.1:g.35136G>A , LRG_288:g.35136G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3613G>A
ENST00000262186.10:c.2780G>A MANE Select	ENSP00000262186.5:p.Trp927Ter
ENST00000330883.9:c.1760G>A	ENSP00000328531.4:p.Trp587Ter
ENST00000262186.9:c.2780G>A	ENSP00000262186.5:p.Trp927Ter
ENST00000330883.8:c.1760G>A	ENSP00000328531.4:p.Trp587Ter
NM_000238.3:c.2780G>A , LRG_288t1:c.2780G>A	NP_000229.1:p.Trp927Ter
NM_172057.2:c.1760G>A , LRG_288t3:c.1760G>A	NP_742054.1:p.Trp587Ter
XM_011516185.1:c.2480G>A	XP_011514487.1:p.Trp827Ter
XM_011516186.1:c.2693-100G>A	XP_011514488.1:n.2693-100G>A
XM_011516185.2:c.2480G>A	XP_011514487.1:p.Trp827Ter
XM_011516186.3:c.2693-100G>A	XP_011514488.1:n.2693-100G>A
XM_017012195.1:c.2630G>A	XP_016867684.1:p.Trp877Ter
XM_017012196.1:c.2603G>A	XP_016867685.1:p.Trp868Ter
NM_000238.4:c.2780G>A MANE Select	NP_000229.1:p.Trp927Ter
NM_172057.3:c.1760G>A	NP_742054.1:p.Trp587Ter