Canonical Allele Identifier: CA369863905

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150656814G>C (hg19) ; chr7:g.150959726G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959726G>C , CM000669.2:g.150959726G>C	GRCh38
NC_000007.13:g.150656814G>C , CM000669.1:g.150656814G>C	GRCh37
NC_000007.12:g.150287747G>C	NCBI36
NG_008916.1:g.23201C>G , LRG_288:g.23201C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1151C>G
ENST00000262186.10:c.318C>G MANE Select	ENSP00000262186.5:p.Phe106Leu
ENST00000262186.9:c.318C>G	ENSP00000262186.5:p.Phe106Leu
ENST00000430723.4:c.141C>G	ENSP00000387657.4:p.Phe47Leu
ENST00000532957.5:n.541C>G
NM_000238.3:c.318C>G , LRG_288t1:c.318C>G	NP_000229.1:p.Phe106Leu
NM_172056.2:c.318C>G , LRG_288t2:c.318C>G	NP_742053.1:p.Phe106Leu
XM_011516185.1:c.18C>G	XP_011514487.1:p.Phe6Leu
XM_011516186.1:c.318C>G	XP_011514488.1:p.Phe106Leu
XM_011516185.2:c.18C>G	XP_011514487.1:p.Phe6Leu
XM_011516186.3:c.318C>G	XP_011514488.1:p.Phe106Leu
XM_017012195.1:c.168C>G	XP_016867684.1:p.Phe56Leu
XM_017012196.1:c.141C>G	XP_016867685.1:p.Phe47Leu
NM_000238.4:c.318C>G MANE Select	NP_000229.1:p.Phe106Leu