Canonical Allele Identifier: CA035595

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 237299
• ClinVar RCV Id: RCV000232149 ; RCV000987998
• dbSNP Id: rs569452580
• ExAC: 7:150644715 C / T
• gnomAD v2: 7-150644715-C-T
• gnomAD v3: 7-150947627-C-T
• gnomAD v4: 7-150947627-C-T
• MyVariant Identifiers: chr7:g.150644715C>T (hg19) ; chr7:g.150947627C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947627C>T , CM000669.2:g.150947627C>T	GRCh38
NC_000007.13:g.150644715C>T , CM000669.1:g.150644715C>T	GRCh37
NC_000007.12:g.150275648C>T	NCBI36
NG_008916.1:g.35300G>A , LRG_288:g.35300G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3777G>A
ENST00000262186.10:c.2944G>A MANE Select	ENSP00000262186.5:p.Asp982Asn
ENST00000330883.9:c.1924G>A	ENSP00000328531.4:p.Asp642Asn
ENST00000262186.9:c.2944G>A	ENSP00000262186.5:p.Asp982Asn
ENST00000330883.8:c.1924G>A	ENSP00000328531.4:p.Asp642Asn
NM_000238.3:c.2944G>A , LRG_288t1:c.2944G>A	NP_000229.1:p.Asp982Asn
NM_172057.2:c.1924G>A , LRG_288t3:c.1924G>A	NP_742054.1:p.Asp642Asn
XM_011516185.1:c.2644G>A	XP_011514487.1:p.Asp882Asn
XM_011516186.1:c.*24G>A	XP_011514488.1:n.*24G>A
XM_011516185.2:c.2644G>A	XP_011514487.1:p.Asp882Asn
XM_011516186.3:c.*24G>A	XP_011514488.1:n.*24G>A
XM_017012195.1:c.2794G>A	XP_016867684.1:p.Asp932Asn
XM_017012196.1:c.2767G>A	XP_016867685.1:p.Asp923Asn
NM_000238.4:c.2944G>A MANE Select	NP_000229.1:p.Asp982Asn
NM_172057.3:c.1924G>A	NP_742054.1:p.Asp642Asn