Canonical Allele Identifier: CA369853687

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2567294
• ClinVar RCV Id: RCV003278431
• MyVariant Identifiers: chr7:g.150645558A>G (hg19) ; chr7:g.150948470A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948470A>G , CM000669.2:g.150948470A>G	GRCh38
NC_000007.13:g.150645558A>G , CM000669.1:g.150645558A>G	GRCh37
NC_000007.12:g.150276491A>G	NCBI36
NG_008916.1:g.34457T>C , LRG_288:g.34457T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3499T>C
ENST00000262186.10:c.2666T>C MANE Select	ENSP00000262186.5:p.Leu889Ser
ENST00000330883.9:c.1646T>C	ENSP00000328531.4:p.Leu549Ser
ENST00000262186.9:c.2666T>C	ENSP00000262186.5:p.Leu889Ser
ENST00000330883.8:c.1646T>C	ENSP00000328531.4:p.Leu549Ser
NM_000238.3:c.2666T>C , LRG_288t1:c.2666T>C	NP_000229.1:p.Leu889Ser
NM_172057.2:c.1646T>C , LRG_288t3:c.1646T>C	NP_742054.1:p.Leu549Ser
XM_011516185.1:c.2366T>C	XP_011514487.1:p.Leu789Ser
XM_011516186.1:c.2666T>C	XP_011514488.1:p.Leu889Ser
XM_011516185.2:c.2366T>C	XP_011514487.1:p.Leu789Ser
XM_011516186.3:c.2666T>C	XP_011514488.1:p.Leu889Ser
XM_017012195.1:c.2516T>C	XP_016867684.1:p.Leu839Ser
XM_017012196.1:c.2489T>C	XP_016867685.1:p.Leu830Ser
NM_000238.4:c.2666T>C MANE Select	NP_000229.1:p.Leu889Ser
NM_172057.3:c.1646T>C	NP_742054.1:p.Leu549Ser