Canonical Allele Identifier: CA369855298

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1720476
• ClinVar RCV Id: RCV002298210
• gnomAD v4: 7-150949010-G-C
• MyVariant Identifiers: chr7:g.150646098G>C (hg19) ; chr7:g.150949010G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949010G>C , CM000669.2:g.150949010G>C	GRCh38
NC_000007.13:g.150646098G>C , CM000669.1:g.150646098G>C	GRCh37
NC_000007.12:g.150277031G>C	NCBI36
NG_008916.1:g.33917C>G , LRG_288:g.33917C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3271C>G
ENST00000262186.10:c.2438C>G MANE Select	ENSP00000262186.5:p.Ala813Gly
ENST00000330883.9:c.1418C>G	ENSP00000328531.4:p.Ala473Gly
ENST00000262186.9:c.2438C>G	ENSP00000262186.5:p.Ala813Gly
ENST00000330883.8:c.1418C>G	ENSP00000328531.4:p.Ala473Gly
NM_000238.3:c.2438C>G , LRG_288t1:c.2438C>G	NP_000229.1:p.Ala813Gly
NM_172057.2:c.1418C>G , LRG_288t3:c.1418C>G	NP_742054.1:p.Ala473Gly
XM_011516185.1:c.2138C>G	XP_011514487.1:p.Ala713Gly
XM_011516186.1:c.2438C>G	XP_011514488.1:p.Ala813Gly
XM_011516185.2:c.2138C>G	XP_011514487.1:p.Ala713Gly
XM_011516186.3:c.2438C>G	XP_011514488.1:p.Ala813Gly
XM_017012195.1:c.2288C>G	XP_016867684.1:p.Ala763Gly
XM_017012196.1:c.2261C>G	XP_016867685.1:p.Ala754Gly
NM_000238.4:c.2438C>G MANE Select	NP_000229.1:p.Ala813Gly
NM_172057.3:c.1418C>G	NP_742054.1:p.Ala473Gly