Canonical Allele Identifier: CA004823

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67214
• ClinVar RCV Id: RCV000057923
• dbSNP Id: rs199472842
• MyVariant Identifiers: chr7:g.150671949C>T (hg19) ; chr7:g.150974861C>T (hg38)
• PubMed: PMID:18441445 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974861C>T , CM000669.2:g.150974861C>T	GRCh38
NC_000007.13:g.150671949C>T , CM000669.1:g.150671949C>T	GRCh37
NC_000007.12:g.150302882C>T	NCBI36
NG_008916.1:g.8066G>A , LRG_288:g.8066G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.157G>A MANE Select	ENSP00000262186.5:p.Gly53Ser
ENST00000262186.9:c.157G>A	ENSP00000262186.5:p.Gly53Ser
ENST00000430723.4:c.-21G>A	ENSP00000387657.4:n.-21G>A
ENST00000532957.5:n.380G>A
NM_000238.3:c.157G>A , LRG_288t1:c.157G>A	NP_000229.1:p.Gly53Ser
NM_172056.2:c.157G>A , LRG_288t2:c.157G>A	NP_742053.1:p.Gly53Ser
XM_011516186.1:c.157G>A	XP_011514488.1:p.Gly53Ser
XM_011516186.3:c.157G>A	XP_011514488.1:p.Gly53Ser
XM_017012196.1:c.-21G>A	XP_016867685.1:n.-21G>A
NM_000238.4:c.157G>A MANE Select	NP_000229.1:p.Gly53Ser