Canonical Allele Identifier: CA169072700

Gene: KCNH2

Linked Data

• dbSNP Id: rs1038071346
• MyVariant Identifiers: chr7:g.150644932C>A (hg19) ; chr7:g.150947844C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947844C>A , CM000669.2:g.150947844C>A	GRCh38
NC_000007.13:g.150644932C>A , CM000669.1:g.150644932C>A	GRCh37
NC_000007.12:g.150275865C>A	NCBI36
NG_008916.1:g.35083G>T , LRG_288:g.35083G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3560G>T
ENST00000262186.10:c.2727G>T MANE Select	ENSP00000262186.5:p.Gly909=
ENST00000330883.9:c.1707G>T	ENSP00000328531.4:p.Gly569=
ENST00000262186.9:c.2727G>T	ENSP00000262186.5:p.Gly909=
ENST00000330883.8:c.1707G>T	ENSP00000328531.4:p.Gly569=
NM_000238.3:c.2727G>T , LRG_288t1:c.2727G>T	NP_000229.1:p.Gly909=
NM_172057.2:c.1707G>T , LRG_288t3:c.1707G>T	NP_742054.1:p.Gly569=
XM_011516185.1:c.2427G>T	XP_011514487.1:p.Gly809=
XM_011516186.1:c.2693-153G>T	XP_011514488.1:n.2693-153G>T
XM_011516185.2:c.2427G>T	XP_011514487.1:p.Gly809=
XM_011516186.3:c.2693-153G>T	XP_011514488.1:n.2693-153G>T
XM_017012195.1:c.2577G>T	XP_016867684.1:p.Gly859=
XM_017012196.1:c.2550G>T	XP_016867685.1:p.Gly850=
NM_000238.4:c.2727G>T MANE Select	NP_000229.1:p.Gly909=
NM_172057.3:c.1707G>T	NP_742054.1:p.Gly569=