Canonical Allele Identifier: CA369852979

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1426577
• ClinVar RCV Id: RCV001929491
• dbSNP Id: rs199473018
• MyVariant Identifiers: chr7:g.150644581T>C (hg19) ; chr7:g.150947493T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947493T>C , CM000669.2:g.150947493T>C	GRCh38
NC_000007.13:g.150644581T>C , CM000669.1:g.150644581T>C	GRCh37
NC_000007.12:g.150275514T>C	NCBI36
NG_008916.1:g.35434A>G , LRG_288:g.35434A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3820A>G
ENST00000262186.10:c.2987A>G MANE Select	ENSP00000262186.5:p.Asn996Ser
ENST00000330883.9:c.1967A>G	ENSP00000328531.4:p.Asn656Ser
ENST00000262186.9:c.2987A>G	ENSP00000262186.5:p.Asn996Ser
ENST00000330883.8:c.1967A>G	ENSP00000328531.4:p.Asn656Ser
NM_000238.3:c.2987A>G , LRG_288t1:c.2987A>G	NP_000229.1:p.Asn996Ser
NM_172057.2:c.1967A>G , LRG_288t3:c.1967A>G	NP_742054.1:p.Asn656Ser
XM_011516185.1:c.2687A>G	XP_011514487.1:p.Asn896Ser
XM_011516186.1:c.*67A>G	XP_011514488.1:n.*67A>G
XM_011516185.2:c.2687A>G	XP_011514487.1:p.Asn896Ser
XM_011516186.3:c.*67A>G	XP_011514488.1:n.*67A>G
XM_017012195.1:c.2837A>G	XP_016867684.1:p.Asn946Ser
XM_017012196.1:c.2810A>G	XP_016867685.1:p.Asn937Ser
NM_000238.4:c.2987A>G MANE Select	NP_000229.1:p.Asn996Ser
NM_172057.3:c.1967A>G	NP_742054.1:p.Asn656Ser