Canonical Allele Identifier: CA369856098

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150647321G>C (hg19) ; chr7:g.150950233G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950233G>C , CM000669.2:g.150950233G>C	GRCh38
NC_000007.13:g.150647321G>C , CM000669.1:g.150647321G>C	GRCh37
NC_000007.12:g.150278254G>C	NCBI36
NG_008916.1:g.32694C>G , LRG_288:g.32694C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1631C>G
ENST00000684241.1:n.3166C>G
ENST00000262186.10:c.2333C>G MANE Select	ENSP00000262186.5:p.Ala778Gly
ENST00000330883.9:c.1313C>G	ENSP00000328531.4:p.Ala438Gly
ENST00000262186.9:c.2333C>G	ENSP00000262186.5:p.Ala778Gly
ENST00000330883.8:c.1313C>G	ENSP00000328531.4:p.Ala438Gly
ENST00000430723.4:c.1985C>G	ENSP00000387657.4:p.Ala662Gly
ENST00000461280.1:n.1620C>G
ENST00000473610.5:n.1965C>G
ENST00000532957.5:n.2556C>G
NM_000238.3:c.2333C>G , LRG_288t1:c.2333C>G	NP_000229.1:p.Ala778Gly
NM_001204798.1:c.1313C>G	NP_001191727.1:p.Ala438Gly
NM_172056.2:c.2333C>G , LRG_288t2:c.2333C>G	NP_742053.1:p.Ala778Gly
NM_172057.2:c.1313C>G , LRG_288t3:c.1313C>G	NP_742054.1:p.Ala438Gly
XM_011516185.1:c.2033C>G	XP_011514487.1:p.Ala678Gly
XM_011516186.1:c.2333C>G	XP_011514488.1:p.Ala778Gly
XM_011516185.2:c.2033C>G	XP_011514487.1:p.Ala678Gly
XM_011516186.3:c.2333C>G	XP_011514488.1:p.Ala778Gly
XM_017012195.1:c.2183C>G	XP_016867684.1:p.Ala728Gly
XM_017012196.1:c.2156C>G	XP_016867685.1:p.Ala719Gly
NM_000238.4:c.2333C>G MANE Select	NP_000229.1:p.Ala778Gly
NM_001204798.2:c.1313C>G	NP_001191727.1:p.Ala438Gly
NM_172057.3:c.1313C>G	NP_742054.1:p.Ala438Gly