Canonical Allele Identifier: CA369862411

Gene: KCNH2

Linked Data

• dbSNP Id: rs2117003656
• gnomAD v4: 7-150958167-T-C
• MyVariant Identifiers: chr7:g.150655255T>C (hg19) ; chr7:g.150958167T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958167T>C , CM000669.2:g.150958167T>C	GRCh38
NC_000007.13:g.150655255T>C , CM000669.1:g.150655255T>C	GRCh37
NC_000007.12:g.150286188T>C	NCBI36
NG_008916.1:g.24760A>G , LRG_288:g.24760A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1641A>G
ENST00000262186.10:c.808A>G MANE Select	ENSP00000262186.5:p.Thr270Ala
ENST00000262186.9:c.808A>G	ENSP00000262186.5:p.Thr270Ala
ENST00000430723.4:c.460A>G	ENSP00000387657.4:p.Thr154Ala
ENST00000532957.5:n.1031A>G
NM_000238.3:c.808A>G , LRG_288t1:c.808A>G	NP_000229.1:p.Thr270Ala
NM_172056.2:c.808A>G , LRG_288t2:c.808A>G	NP_742053.1:p.Thr270Ala
XM_011516185.1:c.508A>G	XP_011514487.1:p.Thr170Ala
XM_011516186.1:c.808A>G	XP_011514488.1:p.Thr270Ala
XM_011516185.2:c.508A>G	XP_011514487.1:p.Thr170Ala
XM_011516186.3:c.808A>G	XP_011514488.1:p.Thr270Ala
XM_017012195.1:c.658A>G	XP_016867684.1:p.Thr220Ala
XM_017012196.1:c.631A>G	XP_016867685.1:p.Thr211Ala
NM_000238.4:c.808A>G MANE Select	NP_000229.1:p.Thr270Ala