Canonical Allele Identifier: CA008748

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67523
• ClinVar RCV Id: RCV000058252 ; RCV000684941
• dbSNP Id: rs199472873
• gnomAD v4: 7-150958224-G-A
• MyVariant Identifiers: chr7:g.150655312G>A (hg19) ; chr7:g.150958224G>A (hg38)
• PubMed: PMID:16414944 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958224G>A , CM000669.2:g.150958224G>A	GRCh38
NC_000007.13:g.150655312G>A , CM000669.1:g.150655312G>A	GRCh37
NC_000007.12:g.150286245G>A	NCBI36
NG_008916.1:g.24703C>T , LRG_288:g.24703C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1584C>T
ENST00000262186.10:c.751C>T MANE Select	ENSP00000262186.5:p.Pro251Ser
ENST00000262186.9:c.751C>T	ENSP00000262186.5:p.Pro251Ser
ENST00000430723.4:c.403C>T	ENSP00000387657.4:p.Pro135Ser
ENST00000532957.5:n.974C>T
NM_000238.3:c.751C>T , LRG_288t1:c.751C>T	NP_000229.1:p.Pro251Ser
NM_172056.2:c.751C>T , LRG_288t2:c.751C>T	NP_742053.1:p.Pro251Ser
XM_011516185.1:c.451C>T	XP_011514487.1:p.Pro151Ser
XM_011516186.1:c.751C>T	XP_011514488.1:p.Pro251Ser
XM_011516185.2:c.451C>T	XP_011514487.1:p.Pro151Ser
XM_011516186.3:c.751C>T	XP_011514488.1:p.Pro251Ser
XM_017012195.1:c.601C>T	XP_016867684.1:p.Pro201Ser
XM_017012196.1:c.574C>T	XP_016867685.1:p.Pro192Ser
NM_000238.4:c.751C>T MANE Select	NP_000229.1:p.Pro251Ser