Canonical Allele Identifier: CA169070331

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2773414
• ClinVar RCV Id: RCV003592241
• dbSNP Id: rs758576235
• gnomAD v4: 7-150945398-G-C
• MyVariant Identifiers: chr7:g.150642486G>C (hg19) ; chr7:g.150945398G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945398G>C , CM000669.2:g.150945398G>C	GRCh38
NC_000007.13:g.150642486G>C , CM000669.1:g.150642486G>C	GRCh37
NC_000007.12:g.150273419G>C	NCBI36
NG_008916.1:g.37529C>G , LRG_288:g.37529C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4280C>G
ENST00000262186.10:c.3447C>G MANE Select	ENSP00000262186.5:p.Pro1149=
ENST00000330883.9:c.2427C>G	ENSP00000328531.4:p.Pro809=
ENST00000262186.9:c.3447C>G	ENSP00000262186.5:p.Pro1149=
ENST00000330883.8:c.2427C>G	ENSP00000328531.4:p.Pro809=
NM_000238.3:c.3447C>G , LRG_288t1:c.3447C>G	NP_000229.1:p.Pro1149=
NM_172057.2:c.2427C>G , LRG_288t3:c.2427C>G	NP_742054.1:p.Pro809=
XM_011516185.1:c.3147C>G	XP_011514487.1:p.Pro1049=
XM_011516185.2:c.3147C>G	XP_011514487.1:p.Pro1049=
XM_017012195.1:c.3297C>G	XP_016867684.1:p.Pro1099=
XM_017012196.1:c.3270C>G	XP_016867685.1:p.Pro1090=
NM_000238.4:c.3447C>G MANE Select	NP_000229.1:p.Pro1149=
NM_172057.3:c.2427C>G	NP_742054.1:p.Pro809=