Canonical Allele Identifier: CA458872355

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150655394T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958306T>G , CM000669.2:g.150958306T>G	GRCh38
NC_000007.13:g.150655394T>G , CM000669.1:g.150655394T>G	GRCh37
NC_000007.12:g.150286327T>G	NCBI36
NG_008916.1:g.24621A>C , LRG_288:g.24621A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1502A>C
ENST00000262186.10:c.669A>C MANE Select	ENSP00000262186.5:p.Ala223=
ENST00000262186.9:c.669A>C	ENSP00000262186.5:p.Ala223=
ENST00000430723.4:c.321A>C	ENSP00000387657.4:p.Ala107=
ENST00000532957.5:n.892A>C
NM_000238.3:c.669A>C , LRG_288t1:c.669A>C	NP_000229.1:p.Ala223=
NM_172056.2:c.669A>C , LRG_288t2:c.669A>C	NP_742053.1:p.Ala223=
XM_011516185.1:c.369A>C	XP_011514487.1:p.Ala123=
XM_011516186.1:c.669A>C	XP_011514488.1:p.Ala223=
XM_011516185.2:c.369A>C	XP_011514487.1:p.Ala123=
XM_011516186.3:c.669A>C	XP_011514488.1:p.Ala223=
XM_017012195.1:c.519A>C	XP_016867684.1:p.Ala173=
XM_017012196.1:c.492A>C	XP_016867685.1:p.Ala164=
NM_000238.4:c.669A>C MANE Select	NP_000229.1:p.Ala223=