Canonical Allele Identifier: CA369861506

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801407221
• gnomAD v4: 7-150957335-T-G
• MyVariant Identifiers: chr7:g.150654423T>G (hg19) ; chr7:g.150957335T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957335T>G , CM000669.2:g.150957335T>G	GRCh38
NC_000007.13:g.150654423T>G , CM000669.1:g.150654423T>G	GRCh37
NC_000007.12:g.150285356T>G	NCBI36
NG_008916.1:g.25592A>C , LRG_288:g.25592A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1917A>C
ENST00000262186.10:c.1084A>C MANE Select	ENSP00000262186.5:p.Lys362Gln
ENST00000262186.9:c.1084A>C	ENSP00000262186.5:p.Lys362Gln
ENST00000430723.4:c.736A>C	ENSP00000387657.4:p.Lys246Gln
ENST00000532957.5:n.1307A>C
NM_000238.3:c.1084A>C , LRG_288t1:c.1084A>C	NP_000229.1:p.Lys362Gln
NM_172056.2:c.1084A>C , LRG_288t2:c.1084A>C	NP_742053.1:p.Lys362Gln
XM_011516185.1:c.784A>C	XP_011514487.1:p.Lys262Gln
XM_011516186.1:c.1084A>C	XP_011514488.1:p.Lys362Gln
XM_011516185.2:c.784A>C	XP_011514487.1:p.Lys262Gln
XM_011516186.3:c.1084A>C	XP_011514488.1:p.Lys362Gln
XM_017012195.1:c.934A>C	XP_016867684.1:p.Lys312Gln
XM_017012196.1:c.907A>C	XP_016867685.1:p.Lys303Gln
NM_000238.4:c.1084A>C MANE Select	NP_000229.1:p.Lys362Gln