Canonical Allele Identifier: CA369862084

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801437207
• gnomAD v4: 7-150958071-G-A
• MyVariant Identifiers: chr7:g.150655159G>A (hg19) ; chr7:g.150958071G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958071G>A , CM000669.2:g.150958071G>A	GRCh38
NC_000007.13:g.150655159G>A , CM000669.1:g.150655159G>A	GRCh37
NC_000007.12:g.150286092G>A	NCBI36
NG_008916.1:g.24856C>T , LRG_288:g.24856C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1737C>T
ENST00000262186.10:c.904C>T MANE Select	ENSP00000262186.5:p.His302Tyr
ENST00000262186.9:c.904C>T	ENSP00000262186.5:p.His302Tyr
ENST00000430723.4:c.556C>T	ENSP00000387657.4:p.His186Tyr
ENST00000532957.5:n.1127C>T
NM_000238.3:c.904C>T , LRG_288t1:c.904C>T	NP_000229.1:p.His302Tyr
NM_172056.2:c.904C>T , LRG_288t2:c.904C>T	NP_742053.1:p.His302Tyr
XM_011516185.1:c.604C>T	XP_011514487.1:p.His202Tyr
XM_011516186.1:c.904C>T	XP_011514488.1:p.His302Tyr
XM_011516185.2:c.604C>T	XP_011514487.1:p.His202Tyr
XM_011516186.3:c.904C>T	XP_011514488.1:p.His302Tyr
XM_017012195.1:c.754C>T	XP_016867684.1:p.His252Tyr
XM_017012196.1:c.727C>T	XP_016867685.1:p.His243Tyr
NM_000238.4:c.904C>T MANE Select	NP_000229.1:p.His302Tyr