Canonical Allele Identifier: CA369861951

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2735103
• ClinVar RCV Id: RCV003531549 ; RCV003593305
• dbSNP Id: rs1393487302
• gnomAD v2: 7-150654585-T-C
• gnomAD v4: 7-150957497-T-C
• MyVariant Identifiers: chr7:g.150654585T>C (hg19) ; chr7:g.150957497T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957497T>C , CM000669.2:g.150957497T>C	GRCh38
NC_000007.13:g.150654585T>C , CM000669.1:g.150654585T>C	GRCh37
NC_000007.12:g.150285518T>C	NCBI36
NG_008916.1:g.25430A>G , LRG_288:g.25430A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1755A>G
ENST00000262186.10:c.922A>G MANE Select	ENSP00000262186.5:p.Met308Val
ENST00000262186.9:c.922A>G	ENSP00000262186.5:p.Met308Val
ENST00000430723.4:c.574A>G	ENSP00000387657.4:p.Met192Val
ENST00000532957.5:n.1145A>G
NM_000238.3:c.922A>G , LRG_288t1:c.922A>G	NP_000229.1:p.Met308Val
NM_172056.2:c.922A>G , LRG_288t2:c.922A>G	NP_742053.1:p.Met308Val
XM_011516185.1:c.622A>G	XP_011514487.1:p.Met208Val
XM_011516186.1:c.922A>G	XP_011514488.1:p.Met308Val
XM_011516185.2:c.622A>G	XP_011514487.1:p.Met208Val
XM_011516186.3:c.922A>G	XP_011514488.1:p.Met308Val
XM_017012195.1:c.772A>G	XP_016867684.1:p.Met258Val
XM_017012196.1:c.745A>G	XP_016867685.1:p.Met249Val
NM_000238.4:c.922A>G MANE Select	NP_000229.1:p.Met308Val