Canonical Allele Identifier: CA369852015

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 921691
• ClinVar RCV Id: RCV001843087
• dbSNP Id: rs1554423737
• gnomAD v4: 7-150946921-G-A
• MyVariant Identifiers: chr7:g.150644009G>A (hg19) ; chr7:g.150946921G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4119C>T
ENST00000262186.10:c.3286C>T MANE Select	ENSP00000262186.5:p.Pro1096Ser
ENST00000330883.9:c.2266C>T	ENSP00000328531.4:p.Pro756Ser
ENST00000262186.9:c.3286C>T	ENSP00000262186.5:p.Pro1096Ser
ENST00000330883.8:c.2266C>T	ENSP00000328531.4:p.Pro756Ser
NM_000238.3:c.3286C>T , LRG_288t1:c.3286C>T	NP_000229.1:p.Pro1096Ser
NM_172057.2:c.2266C>T , LRG_288t3:c.2266C>T	NP_742054.1:p.Pro756Ser
XM_011516185.1:c.2986C>T	XP_011514487.1:p.Pro996Ser
XM_011516185.2:c.2986C>T	XP_011514487.1:p.Pro996Ser
XM_017012195.1:c.3136C>T	XP_016867684.1:p.Pro1046Ser
XM_017012196.1:c.3109C>T	XP_016867685.1:p.Pro1037Ser
NM_000238.4:c.3286C>T MANE Select	NP_000229.1:p.Pro1096Ser
NM_172057.3:c.2266C>T	NP_742054.1:p.Pro756Ser