Canonical Allele Identifier: CA369852018

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 456927
• ClinVar RCV Id: RCV000524687
• dbSNP Id: rs1554423737
• gnomAD v4: 7-150946921-G-T
• MyVariant Identifiers: chr7:g.150644009G>T (hg19) ; chr7:g.150946921G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150946921G>T , CM000669.2:g.150946921G>T	GRCh38
NC_000007.13:g.150644009G>T , CM000669.1:g.150644009G>T	GRCh37
NC_000007.12:g.150274942G>T	NCBI36
NG_008916.1:g.36006C>A , LRG_288:g.36006C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.4119C>A
ENST00000262186.10:c.3286C>A MANE Select	ENSP00000262186.5:p.Pro1096Thr
ENST00000330883.9:c.2266C>A	ENSP00000328531.4:p.Pro756Thr
ENST00000262186.9:c.3286C>A	ENSP00000262186.5:p.Pro1096Thr
ENST00000330883.8:c.2266C>A	ENSP00000328531.4:p.Pro756Thr
NM_000238.3:c.3286C>A , LRG_288t1:c.3286C>A	NP_000229.1:p.Pro1096Thr
NM_172057.2:c.2266C>A , LRG_288t3:c.2266C>A	NP_742054.1:p.Pro756Thr
XM_011516185.1:c.2986C>A	XP_011514487.1:p.Pro996Thr
XM_011516185.2:c.2986C>A	XP_011514487.1:p.Pro996Thr
XM_017012195.1:c.3136C>A	XP_016867684.1:p.Pro1046Thr
XM_017012196.1:c.3109C>A	XP_016867685.1:p.Pro1037Thr
NM_000238.4:c.3286C>A MANE Select	NP_000229.1:p.Pro1096Thr
NM_172057.3:c.2266C>A	NP_742054.1:p.Pro756Thr