Canonical Allele Identifier: CA16612317

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 405351
• ClinVar RCV Id: RCV000473446 ; RCV000786145
• dbSNP Id: rs1057517742
• gnomAD v4: 7-150958430-G-C
• MyVariant Identifiers: chr7:g.150655518G>C (hg19) ; chr7:g.150958430G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958430G>C , CM000669.2:g.150958430G>C	GRCh38
NC_000007.13:g.150655518G>C , CM000669.1:g.150655518G>C	GRCh37
NC_000007.12:g.150286451G>C	NCBI36
NG_008916.1:g.24497C>G , LRG_288:g.24497C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1378C>G
ENST00000262186.10:c.545C>G MANE Select	ENSP00000262186.5:p.Ser182Trp
ENST00000262186.9:c.545C>G	ENSP00000262186.5:p.Ser182Trp
ENST00000430723.4:c.235-38C>G	ENSP00000387657.4:n.235-38C>G
ENST00000532957.5:n.768C>G
NM_000238.3:c.545C>G , LRG_288t1:c.545C>G	NP_000229.1:p.Ser182Trp
NM_172056.2:c.545C>G , LRG_288t2:c.545C>G	NP_742053.1:p.Ser182Trp
XM_011516185.1:c.245C>G	XP_011514487.1:p.Ser82Trp
XM_011516186.1:c.545C>G	XP_011514488.1:p.Ser182Trp
XM_011516185.2:c.245C>G	XP_011514487.1:p.Ser82Trp
XM_011516186.3:c.545C>G	XP_011514488.1:p.Ser182Trp
XM_017012195.1:c.395C>G	XP_016867684.1:p.Ser132Trp
XM_017012196.1:c.368C>G	XP_016867685.1:p.Ser123Trp
NM_000238.4:c.545C>G MANE Select	NP_000229.1:p.Ser182Trp