Canonical Allele Identifier: CA1108709175

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801919778
• gnomAD v3: 7-150974473-T-G
• gnomAD v4: 7-150974473-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974473T>G , CM000669.2:g.150974473T>G	GRCh38
NC_000007.13:g.150671561T>G , CM000669.1:g.150671561T>G	GRCh37
NC_000007.12:g.150302494T>G	NCBI36
NG_008916.1:g.8454A>C , LRG_288:g.8454A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+238A>C MANE Select	ENSP00000262186.5:n.307+238A>C
ENST00000262186.9:c.307+238A>C	ENSP00000262186.5:n.307+238A>C
ENST00000430723.4:c.130+238A>C	ENSP00000387657.4:n.130+238A>C
ENST00000532957.5:n.530+238A>C
NM_000238.3:c.307+238A>C , LRG_288t1:c.307+238A>C	NP_000229.1:n.307+238A>C
NM_172056.2:c.307+238A>C , LRG_288t2:c.307+238A>C	NP_742053.1:n.307+238A>C
XM_011516186.1:c.307+238A>C	XP_011514488.1:n.307+238A>C
XM_011516185.2:c.-97A>C	XP_011514487.1:n.-97A>C
XM_011516186.3:c.307+238A>C	XP_011514488.1:n.307+238A>C
XM_017012196.1:c.130+238A>C	XP_016867685.1:n.130+238A>C
NM_000238.4:c.307+238A>C MANE Select	NP_000229.1:n.307+238A>C