Canonical Allele Identifier: CA369853680

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 926306
• ClinVar RCV Id: RCV001841055
• dbSNP Id: rs1801006262
• MyVariant Identifiers: chr7:g.150645556A>G (hg19) ; chr7:g.150948468A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948468A>G , CM000669.2:g.150948468A>G	GRCh38
NC_000007.13:g.150645556A>G , CM000669.1:g.150645556A>G	GRCh37
NC_000007.12:g.150276489A>G	NCBI36
NG_008916.1:g.34459T>C , LRG_288:g.34459T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3501T>C
ENST00000262186.10:c.2668T>C MANE Select	ENSP00000262186.5:p.Ser890Pro
ENST00000330883.9:c.1648T>C	ENSP00000328531.4:p.Ser550Pro
ENST00000262186.9:c.2668T>C	ENSP00000262186.5:p.Ser890Pro
ENST00000330883.8:c.1648T>C	ENSP00000328531.4:p.Ser550Pro
NM_000238.3:c.2668T>C , LRG_288t1:c.2668T>C	NP_000229.1:p.Ser890Pro
NM_172057.2:c.1648T>C , LRG_288t3:c.1648T>C	NP_742054.1:p.Ser550Pro
XM_011516185.1:c.2368T>C	XP_011514487.1:p.Ser790Pro
XM_011516186.1:c.2668T>C	XP_011514488.1:p.Ser890Pro
XM_011516185.2:c.2368T>C	XP_011514487.1:p.Ser790Pro
XM_011516186.3:c.2668T>C	XP_011514488.1:p.Ser890Pro
XM_017012195.1:c.2518T>C	XP_016867684.1:p.Ser840Pro
XM_017012196.1:c.2491T>C	XP_016867685.1:p.Ser831Pro
NM_000238.4:c.2668T>C MANE Select	NP_000229.1:p.Ser890Pro
NM_172057.3:c.1648T>C	NP_742054.1:p.Ser550Pro