Canonical Allele Identifier: CA008941

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67538
• ClinVar RCV Id: RCV000058267 ; RCV001068013
• dbSNP Id: rs199472830
• gnomAD v4: 7-150974931-G-T
• MyVariant Identifiers: chr7:g.150672019G>T (hg19) ; chr7:g.150974931G>T (hg38)
• PubMed: PMID:10187793 ; PMID:10973849 ; PMID:11668638 ; PMID:11854117 ; PMID:15840476 ; PMID:15851171 ; PMID:16937190 ; PMID:19716085 ; PMID:21536673 ; PMID:22396785 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974931G>T , CM000669.2:g.150974931G>T	GRCh38
NC_000007.13:g.150672019G>T , CM000669.1:g.150672019G>T	GRCh37
NC_000007.12:g.150302952G>T	NCBI36
NG_008916.1:g.7996C>A , LRG_288:g.7996C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.87C>A MANE Select	ENSP00000262186.5:p.Phe29Leu
ENST00000262186.9:c.87C>A	ENSP00000262186.5:p.Phe29Leu
ENST00000430723.4:c.-91C>A	ENSP00000387657.4:n.-91C>A
ENST00000532957.5:n.310C>A
NM_000238.3:c.87C>A , LRG_288t1:c.87C>A	NP_000229.1:p.Phe29Leu
NM_172056.2:c.87C>A , LRG_288t2:c.87C>A	NP_742053.1:p.Phe29Leu
XM_011516186.1:c.87C>A	XP_011514488.1:p.Phe29Leu
XM_011516186.3:c.87C>A	XP_011514488.1:p.Phe29Leu
XM_017012196.1:c.-91C>A	XP_016867685.1:n.-91C>A
NM_000238.4:c.87C>A MANE Select	NP_000229.1:p.Phe29Leu