Canonical Allele Identifier: CA2499218786

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1152342
• ClinVar RCV Id: RCV001493641
• dbSNP Id: rs2116930650

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947519A>G , CM000669.2:g.150947519A>G	GRCh38
NC_000007.13:g.150644607A>G , CM000669.1:g.150644607A>G	GRCh37
NC_000007.12:g.150275540A>G	NCBI36
NG_008916.1:g.35408T>C , LRG_288:g.35408T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3799-5T>C
ENST00000262186.10:c.2966-5T>C MANE Select	ENSP00000262186.5:n.2966-5T>C
ENST00000330883.9:c.1946-5T>C	ENSP00000328531.4:n.1946-5T>C
ENST00000262186.9:c.2966-5T>C	ENSP00000262186.5:n.2966-5T>C
ENST00000330883.8:c.1946-5T>C	ENSP00000328531.4:n.1946-5T>C
NM_000238.3:c.2966-5T>C , LRG_288t1:c.2966-5T>C	NP_000229.1:n.2966-5T>C
NM_172057.2:c.1946-5T>C , LRG_288t3:c.1946-5T>C	NP_742054.1:n.1946-5T>C
XM_011516185.1:c.2666-5T>C	XP_011514487.1:n.2666-5T>C
XM_011516186.1:c.*46-5T>C	XP_011514488.1:n.*46-5T>C
XM_011516185.2:c.2666-5T>C	XP_011514487.1:n.2666-5T>C
XM_011516186.3:c.*46-5T>C	XP_011514488.1:n.*46-5T>C
XM_017012195.1:c.2816-5T>C	XP_016867684.1:n.2816-5T>C
XM_017012196.1:c.2789-5T>C	XP_016867685.1:n.2789-5T>C
NM_000238.4:c.2966-5T>C MANE Select	NP_000229.1:n.2966-5T>C
NM_172057.3:c.1946-5T>C	NP_742054.1:n.1946-5T>C