Canonical Allele Identifier: CA835210754

Gene: KCNH2

Linked Data

• dbSNP Id: rs971089919
• MyVariant Identifiers: chr7:g.150667138G>C (hg19) ; chr7:g.150970050G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150970050G>C , CM000669.2:g.150970050G>C	GRCh38
NC_000007.13:g.150667138G>C , CM000669.1:g.150667138G>C	GRCh37
NC_000007.12:g.150298071G>C	NCBI36
NG_008916.1:g.12877C>G , LRG_288:g.12877C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.307+4661C>G MANE Select	ENSP00000262186.5:n.307+4661C>G
ENST00000262186.9:c.307+4661C>G	ENSP00000262186.5:n.307+4661C>G
ENST00000430723.4:c.130+4661C>G	ENSP00000387657.4:n.130+4661C>G
ENST00000532957.5:n.530+4661C>G
NM_000238.3:c.307+4661C>G , LRG_288t1:c.307+4661C>G	NP_000229.1:n.307+4661C>G
NM_172056.2:c.307+4661C>G , LRG_288t2:c.307+4661C>G	NP_742053.1:n.307+4661C>G
XM_011516185.1:c.7+4320C>G	XP_011514487.1:n.7+4320C>G
XM_011516186.1:c.307+4661C>G	XP_011514488.1:n.307+4661C>G
XM_011516185.2:c.7+4320C>G	XP_011514487.1:n.7+4320C>G
XM_011516186.3:c.307+4661C>G	XP_011514488.1:n.307+4661C>G
XM_017012196.1:c.130+4661C>G	XP_016867685.1:n.130+4661C>G
NM_000238.4:c.307+4661C>G MANE Select	NP_000229.1:n.307+4661C>G