Canonical Allele Identifier: CA005027

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67230
• ClinVar RCV Id: RCV000057940 ; RCV000244156
• dbSNP Id: rs199472921
• MyVariant Identifiers: chr7:g.150648800C>G (hg19) ; chr7:g.150951712C>G (hg38)
• PubMed: PMID:15159330 ; PMID:15280442 ; PMID:18004376 ; PMID:22581653 ; PMID:25417810 ; PMID:26330336

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951712C>G , CM000669.2:g.150951712C>G	GRCh38
NC_000007.13:g.150648800C>G , CM000669.1:g.150648800C>G	GRCh37
NC_000007.12:g.150279733C>G	NCBI36
NG_008916.1:g.31215G>C , LRG_288:g.31215G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.979G>C
ENST00000684241.1:n.2514G>C
ENST00000262186.10:c.1681G>C MANE Select	ENSP00000262186.5:p.Ala561Pro
ENST00000330883.9:c.661G>C	ENSP00000328531.4:p.Ala221Pro
ENST00000262186.9:c.1681G>C	ENSP00000262186.5:p.Ala561Pro
ENST00000330883.8:c.661G>C	ENSP00000328531.4:p.Ala221Pro
ENST00000430723.4:c.1333G>C	ENSP00000387657.4:p.Ala445Pro
ENST00000461280.1:n.968G>C
ENST00000473610.5:n.986G>C
ENST00000532957.5:n.1904G>C
NM_000238.3:c.1681G>C , LRG_288t1:c.1681G>C	NP_000229.1:p.Ala561Pro
NM_001204798.1:c.661G>C	NP_001191727.1:p.Ala221Pro
NM_172056.2:c.1681G>C , LRG_288t2:c.1681G>C	NP_742053.1:p.Ala561Pro
NM_172057.2:c.661G>C , LRG_288t3:c.661G>C	NP_742054.1:p.Ala221Pro
XM_011516185.1:c.1381G>C	XP_011514487.1:p.Ala461Pro
XM_011516186.1:c.1681G>C	XP_011514488.1:p.Ala561Pro
XM_011516185.2:c.1381G>C	XP_011514487.1:p.Ala461Pro
XM_011516186.3:c.1681G>C	XP_011514488.1:p.Ala561Pro
XM_017012195.1:c.1531G>C	XP_016867684.1:p.Ala511Pro
XM_017012196.1:c.1504G>C	XP_016867685.1:p.Ala502Pro
NM_000238.4:c.1681G>C MANE Select	NP_000229.1:p.Ala561Pro
NM_001204798.2:c.661G>C	NP_001191727.1:p.Ala221Pro
NM_172057.3:c.661G>C	NP_742054.1:p.Ala221Pro