Canonical Allele Identifier: CA369863773

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1395363
• ClinVar RCV Id: RCV001927613
• dbSNP Id: rs200343670
• MyVariant Identifiers: chr7:g.150656749T>G (hg19) ; chr7:g.150959661T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959661T>G , CM000669.2:g.150959661T>G	GRCh38
NC_000007.13:g.150656749T>G , CM000669.1:g.150656749T>G	GRCh37
NC_000007.12:g.150287682T>G	NCBI36
NG_008916.1:g.23266A>C , LRG_288:g.23266A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1216A>C
ENST00000262186.10:c.383A>C MANE Select	ENSP00000262186.5:p.Asn128Thr
ENST00000262186.9:c.383A>C	ENSP00000262186.5:p.Asn128Thr
ENST00000430723.4:c.206A>C	ENSP00000387657.4:p.Asn69Thr
ENST00000532957.5:n.606A>C
NM_000238.3:c.383A>C , LRG_288t1:c.383A>C	NP_000229.1:p.Asn128Thr
NM_172056.2:c.383A>C , LRG_288t2:c.383A>C	NP_742053.1:p.Asn128Thr
XM_011516185.1:c.83A>C	XP_011514487.1:p.Asn28Thr
XM_011516186.1:c.383A>C	XP_011514488.1:p.Asn128Thr
XM_011516185.2:c.83A>C	XP_011514487.1:p.Asn28Thr
XM_011516186.3:c.383A>C	XP_011514488.1:p.Asn128Thr
XM_017012195.1:c.233A>C	XP_016867684.1:p.Asn78Thr
XM_017012196.1:c.206A>C	XP_016867685.1:p.Asn69Thr
NM_000238.4:c.383A>C MANE Select	NP_000229.1:p.Asn128Thr