Canonical Allele Identifier: CA369853108

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 919282
• ClinVar RCV Id: RCV001842685 ; RCV002491506
• dbSNP Id: rs761585108
• gnomAD v2: 7-150644728-G-C
• gnomAD v4: 7-150947640-G-C
• MyVariant Identifiers: chr7:g.150644728G>C (hg19) ; chr7:g.150947640G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947640G>C , CM000669.2:g.150947640G>C	GRCh38
NC_000007.13:g.150644728G>C , CM000669.1:g.150644728G>C	GRCh37
NC_000007.12:g.150275661G>C	NCBI36
NG_008916.1:g.35287C>G , LRG_288:g.35287C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3764C>G
ENST00000262186.10:c.2931C>G MANE Select	ENSP00000262186.5:p.Cys977Trp
ENST00000330883.9:c.1911C>G	ENSP00000328531.4:p.Cys637Trp
ENST00000262186.9:c.2931C>G	ENSP00000262186.5:p.Cys977Trp
ENST00000330883.8:c.1911C>G	ENSP00000328531.4:p.Cys637Trp
NM_000238.3:c.2931C>G , LRG_288t1:c.2931C>G	NP_000229.1:p.Cys977Trp
NM_172057.2:c.1911C>G , LRG_288t3:c.1911C>G	NP_742054.1:p.Cys637Trp
XM_011516185.1:c.2631C>G	XP_011514487.1:p.Cys877Trp
XM_011516186.1:c.*11C>G	XP_011514488.1:n.*11C>G
XM_011516185.2:c.2631C>G	XP_011514487.1:p.Cys877Trp
XM_011516186.3:c.*11C>G	XP_011514488.1:n.*11C>G
XM_017012195.1:c.2781C>G	XP_016867684.1:p.Cys927Trp
XM_017012196.1:c.2754C>G	XP_016867685.1:p.Cys918Trp
NM_000238.4:c.2931C>G MANE Select	NP_000229.1:p.Cys977Trp
NM_172057.3:c.1911C>G	NP_742054.1:p.Cys637Trp