Canonical Allele Identifier: CA369853069

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150644711G>T (hg19) ; chr7:g.150947623G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947623G>T , CM000669.2:g.150947623G>T	GRCh38
NC_000007.13:g.150644711G>T , CM000669.1:g.150644711G>T	GRCh37
NC_000007.12:g.150275644G>T	NCBI36
NG_008916.1:g.35304C>A , LRG_288:g.35304C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3781C>A
ENST00000262186.10:c.2948C>A MANE Select	ENSP00000262186.5:p.Thr983Asn
ENST00000330883.9:c.1928C>A	ENSP00000328531.4:p.Thr643Asn
ENST00000262186.9:c.2948C>A	ENSP00000262186.5:p.Thr983Asn
ENST00000330883.8:c.1928C>A	ENSP00000328531.4:p.Thr643Asn
NM_000238.3:c.2948C>A , LRG_288t1:c.2948C>A	NP_000229.1:p.Thr983Asn
NM_172057.2:c.1928C>A , LRG_288t3:c.1928C>A	NP_742054.1:p.Thr643Asn
XM_011516185.1:c.2648C>A	XP_011514487.1:p.Thr883Asn
XM_011516186.1:c.*28C>A	XP_011514488.1:n.*28C>A
XM_011516185.2:c.2648C>A	XP_011514487.1:p.Thr883Asn
XM_011516186.3:c.*28C>A	XP_011514488.1:n.*28C>A
XM_017012195.1:c.2798C>A	XP_016867684.1:p.Thr933Asn
XM_017012196.1:c.2771C>A	XP_016867685.1:p.Thr924Asn
NM_000238.4:c.2948C>A MANE Select	NP_000229.1:p.Thr983Asn
NM_172057.3:c.1928C>A	NP_742054.1:p.Thr643Asn