Canonical Allele Identifier: CA369853557

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 927383
• ClinVar RCV Id: RCV002429839 ; RCV001841113
• dbSNP Id: rs1800975855
• gnomAD v4: 7-150947870-G-A
• MyVariant Identifiers: chr7:g.150644958G>A (hg19) ; chr7:g.150947870G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947870G>A , CM000669.2:g.150947870G>A	GRCh38
NC_000007.13:g.150644958G>A , CM000669.1:g.150644958G>A	GRCh37
NC_000007.12:g.150275891G>A	NCBI36
NG_008916.1:g.35057C>T , LRG_288:g.35057C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3534C>T
ENST00000262186.10:c.2701C>T MANE Select	ENSP00000262186.5:p.Gln901Ter
ENST00000330883.9:c.1681C>T	ENSP00000328531.4:p.Gln561Ter
ENST00000262186.9:c.2701C>T	ENSP00000262186.5:p.Gln901Ter
ENST00000330883.8:c.1681C>T	ENSP00000328531.4:p.Gln561Ter
NM_000238.3:c.2701C>T , LRG_288t1:c.2701C>T	NP_000229.1:p.Gln901Ter
NM_172057.2:c.1681C>T , LRG_288t3:c.1681C>T	NP_742054.1:p.Gln561Ter
XM_011516185.1:c.2401C>T	XP_011514487.1:p.Gln801Ter
XM_011516186.1:c.2693-179C>T	XP_011514488.1:n.2693-179C>T
XM_011516185.2:c.2401C>T	XP_011514487.1:p.Gln801Ter
XM_011516186.3:c.2693-179C>T	XP_011514488.1:n.2693-179C>T
XM_017012195.1:c.2551C>T	XP_016867684.1:p.Gln851Ter
XM_017012196.1:c.2524C>T	XP_016867685.1:p.Gln842Ter
NM_000238.4:c.2701C>T MANE Select	NP_000229.1:p.Gln901Ter
NM_172057.3:c.1681C>T	NP_742054.1:p.Gln561Ter