Canonical Allele Identifier: CA369853431

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2181844
• ClinVar RCV Id: RCV002595864
• dbSNP Id: rs199473009
• gnomAD v2: 7-150644888-C-A
• gnomAD v4: 7-150947800-C-A
• MyVariant Identifiers: chr7:g.150644888C>A (hg19) ; chr7:g.150947800C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947800C>A , CM000669.2:g.150947800C>A	GRCh38
NC_000007.13:g.150644888C>A , CM000669.1:g.150644888C>A	GRCh37
NC_000007.12:g.150275821C>A	NCBI36
NG_008916.1:g.35127G>T , LRG_288:g.35127G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3604G>T
ENST00000262186.10:c.2771G>T MANE Select	ENSP00000262186.5:p.Gly924Val
ENST00000330883.9:c.1751G>T	ENSP00000328531.4:p.Gly584Val
ENST00000262186.9:c.2771G>T	ENSP00000262186.5:p.Gly924Val
ENST00000330883.8:c.1751G>T	ENSP00000328531.4:p.Gly584Val
NM_000238.3:c.2771G>T , LRG_288t1:c.2771G>T	NP_000229.1:p.Gly924Val
NM_172057.2:c.1751G>T , LRG_288t3:c.1751G>T	NP_742054.1:p.Gly584Val
XM_011516185.1:c.2471G>T	XP_011514487.1:p.Gly824Val
XM_011516186.1:c.2693-109G>T	XP_011514488.1:n.2693-109G>T
XM_011516185.2:c.2471G>T	XP_011514487.1:p.Gly824Val
XM_011516186.3:c.2693-109G>T	XP_011514488.1:n.2693-109G>T
XM_017012195.1:c.2621G>T	XP_016867684.1:p.Gly874Val
XM_017012196.1:c.2594G>T	XP_016867685.1:p.Gly865Val
NM_000238.4:c.2771G>T MANE Select	NP_000229.1:p.Gly924Val
NM_172057.3:c.1751G>T	NP_742054.1:p.Gly584Val