Canonical Allele Identifier: CA369855235

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150646083G>T (hg19) ; chr7:g.150948995G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948995G>T , CM000669.2:g.150948995G>T	GRCh38
NC_000007.13:g.150646083G>T , CM000669.1:g.150646083G>T	GRCh37
NC_000007.12:g.150277016G>T	NCBI36
NG_008916.1:g.33932C>A , LRG_288:g.33932C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3286C>A
ENST00000262186.10:c.2453C>A MANE Select	ENSP00000262186.5:p.Ser818Ter
ENST00000330883.9:c.1433C>A	ENSP00000328531.4:p.Ser478Ter
ENST00000262186.9:c.2453C>A	ENSP00000262186.5:p.Ser818Ter
ENST00000330883.8:c.1433C>A	ENSP00000328531.4:p.Ser478Ter
NM_000238.3:c.2453C>A , LRG_288t1:c.2453C>A	NP_000229.1:p.Ser818Ter
NM_172057.2:c.1433C>A , LRG_288t3:c.1433C>A	NP_742054.1:p.Ser478Ter
XM_011516185.1:c.2153C>A	XP_011514487.1:p.Ser718Ter
XM_011516186.1:c.2453C>A	XP_011514488.1:p.Ser818Ter
XM_011516185.2:c.2153C>A	XP_011514487.1:p.Ser718Ter
XM_011516186.3:c.2453C>A	XP_011514488.1:p.Ser818Ter
XM_017012195.1:c.2303C>A	XP_016867684.1:p.Ser768Ter
XM_017012196.1:c.2276C>A	XP_016867685.1:p.Ser759Ter
NM_000238.4:c.2453C>A MANE Select	NP_000229.1:p.Ser818Ter
NM_172057.3:c.1433C>A	NP_742054.1:p.Ser478Ter