Canonical Allele Identifier: CA041333

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 629260
• ClinVar RCV Id: RCV001856073 ; RCV001841919
• dbSNP Id: rs776431167
• ExAC: 7:150654528 A / G
• gnomAD v2: 7-150654528-A-G
• gnomAD v4: 7-150957440-A-G
• MyVariant Identifiers: chr7:g.150654528A>G (hg19) ; chr7:g.150957440A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957440A>G , CM000669.2:g.150957440A>G	GRCh38
NC_000007.13:g.150654528A>G , CM000669.1:g.150654528A>G	GRCh37
NC_000007.12:g.150285461A>G	NCBI36
NG_008916.1:g.25487T>C , LRG_288:g.25487T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1812T>C
ENST00000262186.10:c.979T>C MANE Select	ENSP00000262186.5:p.Tyr327His
ENST00000262186.9:c.979T>C	ENSP00000262186.5:p.Tyr327His
ENST00000430723.4:c.631T>C	ENSP00000387657.4:p.Tyr211His
ENST00000532957.5:n.1202T>C
NM_000238.3:c.979T>C , LRG_288t1:c.979T>C	NP_000229.1:p.Tyr327His
NM_172056.2:c.979T>C , LRG_288t2:c.979T>C	NP_742053.1:p.Tyr327His
XM_011516185.1:c.679T>C	XP_011514487.1:p.Tyr227His
XM_011516186.1:c.979T>C	XP_011514488.1:p.Tyr327His
XM_011516185.2:c.679T>C	XP_011514487.1:p.Tyr227His
XM_011516186.3:c.979T>C	XP_011514488.1:p.Tyr327His
XM_017012195.1:c.829T>C	XP_016867684.1:p.Tyr277His
XM_017012196.1:c.802T>C	XP_016867685.1:p.Tyr268His
NM_000238.4:c.979T>C MANE Select	NP_000229.1:p.Tyr327His