Canonical Allele Identifier: CA369853861

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2498009
• ClinVar RCV Id: RCV003219075
• MyVariant Identifiers: chr7:g.150645604T>G (hg19) ; chr7:g.150948516T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948516T>G , CM000669.2:g.150948516T>G	GRCh38
NC_000007.13:g.150645604T>G , CM000669.1:g.150645604T>G	GRCh37
NC_000007.12:g.150276537T>G	NCBI36
NG_008916.1:g.34411A>C , LRG_288:g.34411A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3453A>C
ENST00000262186.10:c.2620A>C MANE Select	ENSP00000262186.5:p.Ser874Arg
ENST00000330883.9:c.1600A>C	ENSP00000328531.4:p.Ser534Arg
ENST00000262186.9:c.2620A>C	ENSP00000262186.5:p.Ser874Arg
ENST00000330883.8:c.1600A>C	ENSP00000328531.4:p.Ser534Arg
NM_000238.3:c.2620A>C , LRG_288t1:c.2620A>C	NP_000229.1:p.Ser874Arg
NM_172057.2:c.1600A>C , LRG_288t3:c.1600A>C	NP_742054.1:p.Ser534Arg
XM_011516185.1:c.2320A>C	XP_011514487.1:p.Ser774Arg
XM_011516186.1:c.2620A>C	XP_011514488.1:p.Ser874Arg
XM_011516185.2:c.2320A>C	XP_011514487.1:p.Ser774Arg
XM_011516186.3:c.2620A>C	XP_011514488.1:p.Ser874Arg
XM_017012195.1:c.2470A>C	XP_016867684.1:p.Ser824Arg
XM_017012196.1:c.2443A>C	XP_016867685.1:p.Ser815Arg
NM_000238.4:c.2620A>C MANE Select	NP_000229.1:p.Ser874Arg
NM_172057.3:c.1600A>C	NP_742054.1:p.Ser534Arg