Canonical Allele Identifier: CA458871013

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150644812G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947724G>A , CM000669.2:g.150947724G>A	GRCh38
NC_000007.13:g.150644812G>A , CM000669.1:g.150644812G>A	GRCh37
NC_000007.12:g.150275745G>A	NCBI36
NG_008916.1:g.35203C>T , LRG_288:g.35203C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3680C>T
ENST00000262186.10:c.2847C>T MANE Select	ENSP00000262186.5:p.Ser949=
ENST00000330883.9:c.1827C>T	ENSP00000328531.4:p.Ser609=
ENST00000262186.9:c.2847C>T	ENSP00000262186.5:p.Ser949=
ENST00000330883.8:c.1827C>T	ENSP00000328531.4:p.Ser609=
NM_000238.3:c.2847C>T , LRG_288t1:c.2847C>T	NP_000229.1:p.Ser949=
NM_172057.2:c.1827C>T , LRG_288t3:c.1827C>T	NP_742054.1:p.Ser609=
XM_011516185.1:c.2547C>T	XP_011514487.1:p.Ser849=
XM_011516186.1:c.2693-33C>T	XP_011514488.1:n.2693-33C>T
XM_011516185.2:c.2547C>T	XP_011514487.1:p.Ser849=
XM_011516186.3:c.2693-33C>T	XP_011514488.1:n.2693-33C>T
XM_017012195.1:c.2697C>T	XP_016867684.1:p.Ser899=
XM_017012196.1:c.2670C>T	XP_016867685.1:p.Ser890=
NM_000238.4:c.2847C>T MANE Select	NP_000229.1:p.Ser949=
NM_172057.3:c.1827C>T	NP_742054.1:p.Ser609=