Canonical Allele Identifier: CA008369

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67501
• ClinVar RCV Id: RCV000058230 ; RCV002514290
• dbSNP Id: rs199472862
• MyVariant Identifiers: chr7:g.150656761A>C (hg19) ; chr7:g.150959673A>C (hg38)
• PubMed: PMID:11854117 ; PMID:16029385 ; PMID:21536673 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959673A>C , CM000669.2:g.150959673A>C	GRCh38
NC_000007.13:g.150656761A>C , CM000669.1:g.150656761A>C	GRCh37
NC_000007.12:g.150287694A>C	NCBI36
NG_008916.1:g.23254T>G , LRG_288:g.23254T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1204T>G
ENST00000262186.10:c.371T>G MANE Select	ENSP00000262186.5:p.Met124Arg
ENST00000262186.9:c.371T>G	ENSP00000262186.5:p.Met124Arg
ENST00000430723.4:c.194T>G	ENSP00000387657.4:p.Met65Arg
ENST00000532957.5:n.594T>G
NM_000238.3:c.371T>G , LRG_288t1:c.371T>G	NP_000229.1:p.Met124Arg
NM_172056.2:c.371T>G , LRG_288t2:c.371T>G	NP_742053.1:p.Met124Arg
XM_011516185.1:c.71T>G	XP_011514487.1:p.Met24Arg
XM_011516186.1:c.371T>G	XP_011514488.1:p.Met124Arg
XM_011516185.2:c.71T>G	XP_011514487.1:p.Met24Arg
XM_011516186.3:c.371T>G	XP_011514488.1:p.Met124Arg
XM_017012195.1:c.221T>G	XP_016867684.1:p.Met74Arg
XM_017012196.1:c.194T>G	XP_016867685.1:p.Met65Arg
NM_000238.4:c.371T>G MANE Select	NP_000229.1:p.Met124Arg