Canonical Allele Identifier: CA1752429573

Gene: KCNH2

Linked Data

• dbSNP Id: rs1800950803
• gnomAD v4: 7-150947548-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947548T>C , CM000669.2:g.150947548T>C	GRCh38
NC_000007.13:g.150644636T>C , CM000669.1:g.150644636T>C	GRCh37
NC_000007.12:g.150275569T>C	NCBI36
NG_008916.1:g.35379A>G , LRG_288:g.35379A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3799-34A>G
ENST00000262186.10:c.2966-34A>G MANE Select	ENSP00000262186.5:n.2966-34A>G
ENST00000330883.9:c.1946-34A>G	ENSP00000328531.4:n.1946-34A>G
ENST00000262186.9:c.2966-34A>G	ENSP00000262186.5:n.2966-34A>G
ENST00000330883.8:c.1946-34A>G	ENSP00000328531.4:n.1946-34A>G
NM_000238.3:c.2966-34A>G , LRG_288t1:c.2966-34A>G	NP_000229.1:n.2966-34A>G
NM_172057.2:c.1946-34A>G , LRG_288t3:c.1946-34A>G	NP_742054.1:n.1946-34A>G
XM_011516185.1:c.2666-34A>G	XP_011514487.1:n.2666-34A>G
XM_011516186.1:c.*46-34A>G	XP_011514488.1:n.*46-34A>G
XM_011516185.2:c.2666-34A>G	XP_011514487.1:n.2666-34A>G
XM_011516186.3:c.*46-34A>G	XP_011514488.1:n.*46-34A>G
XM_017012195.1:c.2816-34A>G	XP_016867684.1:n.2816-34A>G
XM_017012196.1:c.2789-34A>G	XP_016867685.1:n.2789-34A>G
NM_000238.4:c.2966-34A>G MANE Select	NP_000229.1:n.2966-34A>G
NM_172057.3:c.1946-34A>G	NP_742054.1:n.1946-34A>G