Canonical Allele Identifier: CA369853675

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1794521
• ClinVar RCV Id: RCV002428783 ; RCV003102092
• dbSNP Id: rs1801006181
• gnomAD v3: 7-150948467-G-C
• gnomAD v4: 7-150948467-G-C
• MyVariant Identifiers: chr7:g.150645555G>C (hg19) ; chr7:g.150948467G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948467G>C , CM000669.2:g.150948467G>C	GRCh38
NC_000007.13:g.150645555G>C , CM000669.1:g.150645555G>C	GRCh37
NC_000007.12:g.150276488G>C	NCBI36
NG_008916.1:g.34460C>G , LRG_288:g.34460C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3502C>G
ENST00000262186.10:c.2669C>G MANE Select	ENSP00000262186.5:p.Ser890Cys
ENST00000330883.9:c.1649C>G	ENSP00000328531.4:p.Ser550Cys
ENST00000262186.9:c.2669C>G	ENSP00000262186.5:p.Ser890Cys
ENST00000330883.8:c.1649C>G	ENSP00000328531.4:p.Ser550Cys
NM_000238.3:c.2669C>G , LRG_288t1:c.2669C>G	NP_000229.1:p.Ser890Cys
NM_172057.2:c.1649C>G , LRG_288t3:c.1649C>G	NP_742054.1:p.Ser550Cys
XM_011516185.1:c.2369C>G	XP_011514487.1:p.Ser790Cys
XM_011516186.1:c.2669C>G	XP_011514488.1:p.Ser890Cys
XM_011516185.2:c.2369C>G	XP_011514487.1:p.Ser790Cys
XM_011516186.3:c.2669C>G	XP_011514488.1:p.Ser890Cys
XM_017012195.1:c.2519C>G	XP_016867684.1:p.Ser840Cys
XM_017012196.1:c.2492C>G	XP_016867685.1:p.Ser831Cys
NM_000238.4:c.2669C>G MANE Select	NP_000229.1:p.Ser890Cys
NM_172057.3:c.1649C>G	NP_742054.1:p.Ser550Cys