Canonical Allele Identifier: CA2685606798

Gene: KCNH2

Linked Data

• dbSNP Id: rs2117002002
• gnomAD v4: 7-150958016-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958016A>G , CM000669.2:g.150958016A>G	GRCh38
NC_000007.13:g.150655104A>G , CM000669.1:g.150655104A>G	GRCh37
NC_000007.12:g.150286037A>G	NCBI36
NG_008916.1:g.24911T>C , LRG_288:g.24911T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1749+43T>C
ENST00000262186.10:c.916+43T>C MANE Select	ENSP00000262186.5:n.916+43T>C
ENST00000262186.9:c.916+43T>C	ENSP00000262186.5:n.916+43T>C
ENST00000430723.4:c.568+43T>C	ENSP00000387657.4:n.568+43T>C
ENST00000532957.5:n.1139+43T>C
NM_000238.3:c.916+43T>C , LRG_288t1:c.916+43T>C	NP_000229.1:n.916+43T>C
NM_172056.2:c.916+43T>C , LRG_288t2:c.916+43T>C	NP_742053.1:n.916+43T>C
XM_011516185.1:c.616+43T>C	XP_011514487.1:n.616+43T>C
XM_011516186.1:c.916+43T>C	XP_011514488.1:n.916+43T>C
XM_011516185.2:c.616+43T>C	XP_011514487.1:n.616+43T>C
XM_011516186.3:c.916+43T>C	XP_011514488.1:n.916+43T>C
XM_017012195.1:c.766+43T>C	XP_016867684.1:n.766+43T>C
XM_017012196.1:c.739+43T>C	XP_016867685.1:n.739+43T>C
NM_000238.4:c.916+43T>C MANE Select	NP_000229.1:n.916+43T>C