Canonical Allele Identifier: CA006305

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67370
• ClinVar RCV Id: RCV000058090 ; RCV000181938 ; RCV002513759 ; RCV002415514
• dbSNP Id: rs199473421
• gnomAD v4: 7-150974803-G-A
• MyVariant Identifiers: chr7:g.150671891G>A (hg19) ; chr7:g.150974803G>A (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974803G>A , CM000669.2:g.150974803G>A	GRCh38
NC_000007.13:g.150671891G>A , CM000669.1:g.150671891G>A	GRCh37
NC_000007.12:g.150302824G>A	NCBI36
NG_008916.1:g.8124C>T , LRG_288:g.8124C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.215C>T MANE Select	ENSP00000262186.5:p.Pro72Leu
ENST00000262186.9:c.215C>T	ENSP00000262186.5:p.Pro72Leu
ENST00000430723.4:c.38C>T	ENSP00000387657.4:p.Pro13Leu
ENST00000532957.5:n.438C>T
NM_000238.3:c.215C>T , LRG_288t1:c.215C>T	NP_000229.1:p.Pro72Leu
NM_172056.2:c.215C>T , LRG_288t2:c.215C>T	NP_742053.1:p.Pro72Leu
XM_011516186.1:c.215C>T	XP_011514488.1:p.Pro72Leu
XM_011516186.3:c.215C>T	XP_011514488.1:p.Pro72Leu
XM_017012196.1:c.38C>T	XP_016867685.1:p.Pro13Leu
NM_000238.4:c.215C>T MANE Select	NP_000229.1:p.Pro72Leu