Canonical Allele Identifier: CA039013

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 359301
• ClinVar RCV Id: RCV000340691 ; RCV000617989 ; RCV000765942
• dbSNP Id: rs778879572
• ExAC: 7:150642497 T / A
• gnomAD v2: 7-150642497-T-A
• gnomAD v3: 7-150945409-T-A
• gnomAD v4: 7-150945409-T-A
• MyVariant Identifiers: chr7:g.150642497T>A (hg19) ; chr7:g.150945409T>A (hg38)
• PubMed: PMID:22677073

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945409T>A , CM000669.2:g.150945409T>A	GRCh38
NC_000007.13:g.150642497T>A , CM000669.1:g.150642497T>A	GRCh37
NC_000007.12:g.150273430T>A	NCBI36
NG_008916.1:g.37518A>T , LRG_288:g.37518A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4269A>T
ENST00000262186.10:c.3436A>T MANE Select	ENSP00000262186.5:p.Thr1146Ser
ENST00000330883.9:c.2416A>T	ENSP00000328531.4:p.Thr806Ser
ENST00000262186.9:c.3436A>T	ENSP00000262186.5:p.Thr1146Ser
ENST00000330883.8:c.2416A>T	ENSP00000328531.4:p.Thr806Ser
NM_000238.3:c.3436A>T , LRG_288t1:c.3436A>T	NP_000229.1:p.Thr1146Ser
NM_172057.2:c.2416A>T , LRG_288t3:c.2416A>T	NP_742054.1:p.Thr806Ser
XM_011516185.1:c.3136A>T	XP_011514487.1:p.Thr1046Ser
XM_011516185.2:c.3136A>T	XP_011514487.1:p.Thr1046Ser
XM_017012195.1:c.3286A>T	XP_016867684.1:p.Thr1096Ser
XM_017012196.1:c.3259A>T	XP_016867685.1:p.Thr1087Ser
NM_000238.4:c.3436A>T MANE Select	NP_000229.1:p.Thr1146Ser
NM_172057.3:c.2416A>T	NP_742054.1:p.Thr806Ser