Canonical Allele Identifier: CA369855023

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150646030C>A (hg19) ; chr7:g.150948942C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948942C>A , CM000669.2:g.150948942C>A	GRCh38
NC_000007.13:g.150646030C>A , CM000669.1:g.150646030C>A	GRCh37
NC_000007.12:g.150276963C>A	NCBI36
NG_008916.1:g.33985G>T , LRG_288:g.33985G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3339G>T
ENST00000262186.10:c.2506G>T MANE Select	ENSP00000262186.5:p.Asp836Tyr
ENST00000330883.9:c.1486G>T	ENSP00000328531.4:p.Asp496Tyr
ENST00000262186.9:c.2506G>T	ENSP00000262186.5:p.Asp836Tyr
ENST00000330883.8:c.1486G>T	ENSP00000328531.4:p.Asp496Tyr
NM_000238.3:c.2506G>T , LRG_288t1:c.2506G>T	NP_000229.1:p.Asp836Tyr
NM_172057.2:c.1486G>T , LRG_288t3:c.1486G>T	NP_742054.1:p.Asp496Tyr
XM_011516185.1:c.2206G>T	XP_011514487.1:p.Asp736Tyr
XM_011516186.1:c.2506G>T	XP_011514488.1:p.Asp836Tyr
XM_011516185.2:c.2206G>T	XP_011514487.1:p.Asp736Tyr
XM_011516186.3:c.2506G>T	XP_011514488.1:p.Asp836Tyr
XM_017012195.1:c.2356G>T	XP_016867684.1:p.Asp786Tyr
XM_017012196.1:c.2329G>T	XP_016867685.1:p.Asp777Tyr
NM_000238.4:c.2506G>T MANE Select	NP_000229.1:p.Asp836Tyr
NM_172057.3:c.1486G>T	NP_742054.1:p.Asp496Tyr