Canonical Allele Identifier: CA369863396

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1059858
• ClinVar RCV Id: RCV001369217
• dbSNP Id: rs2117006847
• MyVariant Identifiers: chr7:g.150655528A>C (hg19) ; chr7:g.150958440A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958440A>C , CM000669.2:g.150958440A>C	GRCh38
NC_000007.13:g.150655528A>C , CM000669.1:g.150655528A>C	GRCh37
NC_000007.12:g.150286461A>C	NCBI36
NG_008916.1:g.24487T>G , LRG_288:g.24487T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1368T>G
ENST00000262186.10:c.535T>G MANE Select	ENSP00000262186.5:p.Ser179Ala
ENST00000262186.9:c.535T>G	ENSP00000262186.5:p.Ser179Ala
ENST00000430723.4:c.235-48T>G	ENSP00000387657.4:n.235-48T>G
ENST00000532957.5:n.758T>G
NM_000238.3:c.535T>G , LRG_288t1:c.535T>G	NP_000229.1:p.Ser179Ala
NM_172056.2:c.535T>G , LRG_288t2:c.535T>G	NP_742053.1:p.Ser179Ala
XM_011516185.1:c.235T>G	XP_011514487.1:p.Ser79Ala
XM_011516186.1:c.535T>G	XP_011514488.1:p.Ser179Ala
XM_011516185.2:c.235T>G	XP_011514487.1:p.Ser79Ala
XM_011516186.3:c.535T>G	XP_011514488.1:p.Ser179Ala
XM_017012195.1:c.385T>G	XP_016867684.1:p.Ser129Ala
XM_017012196.1:c.358T>G	XP_016867685.1:p.Ser120Ala
NM_000238.4:c.535T>G MANE Select	NP_000229.1:p.Ser179Ala