Canonical Allele Identifier: CA007429

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200501
• ClinVar RCV Id: RCV000181895 ; RCV000540197 ; RCV001160950 ; RCV001842833 ; RCV002433795 ; RCV002492806
• dbSNP Id: rs794728399
• gnomAD v2: 7-150644879-C-A
• gnomAD v3: 7-150947791-C-A
• gnomAD v4: 7-150947791-C-A
• MyVariant Identifiers: chr7:g.150644879C>A (hg19) ; chr7:g.150947791C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3613G>T
ENST00000262186.10:c.2780G>T MANE Select	ENSP00000262186.5:p.Trp927Leu
ENST00000330883.9:c.1760G>T	ENSP00000328531.4:p.Trp587Leu
ENST00000262186.9:c.2780G>T	ENSP00000262186.5:p.Trp927Leu
ENST00000330883.8:c.1760G>T	ENSP00000328531.4:p.Trp587Leu
NM_000238.3:c.2780G>T , LRG_288t1:c.2780G>T	NP_000229.1:p.Trp927Leu
NM_172057.2:c.1760G>T , LRG_288t3:c.1760G>T	NP_742054.1:p.Trp587Leu
XM_011516185.1:c.2480G>T	XP_011514487.1:p.Trp827Leu
XM_011516186.1:c.2693-100G>T	XP_011514488.1:n.2693-100G>T
XM_011516185.2:c.2480G>T	XP_011514487.1:p.Trp827Leu
XM_011516186.3:c.2693-100G>T	XP_011514488.1:n.2693-100G>T
XM_017012195.1:c.2630G>T	XP_016867684.1:p.Trp877Leu
XM_017012196.1:c.2603G>T	XP_016867685.1:p.Trp868Leu
NM_000238.4:c.2780G>T MANE Select	NP_000229.1:p.Trp927Leu
NM_172057.3:c.1760G>T	NP_742054.1:p.Trp587Leu