Canonical Allele Identifier: CA458644753

Gene: KCNH2

Linked Data

• COSMIC: COSM4929335 ; COSM4929336
• MyVariant Identifiers: chr7:g.150644109A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947021A>T , CM000669.2:g.150947021A>T	GRCh38
NC_000007.13:g.150644109A>T , CM000669.1:g.150644109A>T	GRCh37
NC_000007.12:g.150275042A>T	NCBI36
NG_008916.1:g.35906T>A , LRG_288:g.35906T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.4019T>A
ENST00000262186.10:c.3186T>A MANE Select	ENSP00000262186.5:p.Thr1062=
ENST00000330883.9:c.2166T>A	ENSP00000328531.4:p.Thr722=
ENST00000262186.9:c.3186T>A	ENSP00000262186.5:p.Thr1062=
ENST00000330883.8:c.2166T>A	ENSP00000328531.4:p.Thr722=
NM_000238.3:c.3186T>A , LRG_288t1:c.3186T>A	NP_000229.1:p.Thr1062=
NM_172057.2:c.2166T>A , LRG_288t3:c.2166T>A	NP_742054.1:p.Thr722=
XM_011516185.1:c.2886T>A	XP_011514487.1:p.Thr962=
XM_011516185.2:c.2886T>A	XP_011514487.1:p.Thr962=
XM_017012195.1:c.3036T>A	XP_016867684.1:p.Thr1012=
XM_017012196.1:c.3009T>A	XP_016867685.1:p.Thr1003=
NM_000238.4:c.3186T>A MANE Select	NP_000229.1:p.Thr1062=
NM_172057.3:c.2166T>A	NP_742054.1:p.Thr722=