Canonical Allele Identifier: CA369854763

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1490630
• ClinVar RCV Id: RCV001978627
• dbSNP Id: rs1229440071
• gnomAD v3: 7-150948883-G-C
• gnomAD v4: 7-150948883-G-C
• MyVariant Identifiers: chr7:g.150645971G>C (hg19) ; chr7:g.150948883G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948883G>C , CM000669.2:g.150948883G>C	GRCh38
NC_000007.13:g.150645971G>C , CM000669.1:g.150645971G>C	GRCh37
NC_000007.12:g.150276904G>C	NCBI36
NG_008916.1:g.34044C>G , LRG_288:g.34044C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3398C>G
ENST00000262186.10:c.2565C>G MANE Select	ENSP00000262186.5:p.Ser855Arg
ENST00000330883.9:c.1545C>G	ENSP00000328531.4:p.Ser515Arg
ENST00000262186.9:c.2565C>G	ENSP00000262186.5:p.Ser855Arg
ENST00000330883.8:c.1545C>G	ENSP00000328531.4:p.Ser515Arg
NM_000238.3:c.2565C>G , LRG_288t1:c.2565C>G	NP_000229.1:p.Ser855Arg
NM_172057.2:c.1545C>G , LRG_288t3:c.1545C>G	NP_742054.1:p.Ser515Arg
XM_011516185.1:c.2265C>G	XP_011514487.1:p.Ser755Arg
XM_011516186.1:c.2565C>G	XP_011514488.1:p.Ser855Arg
XM_011516185.2:c.2265C>G	XP_011514487.1:p.Ser755Arg
XM_011516186.3:c.2565C>G	XP_011514488.1:p.Ser855Arg
XM_017012195.1:c.2415C>G	XP_016867684.1:p.Ser805Arg
XM_017012196.1:c.2388C>G	XP_016867685.1:p.Ser796Arg
NM_000238.4:c.2565C>G MANE Select	NP_000229.1:p.Ser855Arg
NM_172057.3:c.1545C>G	NP_742054.1:p.Ser515Arg