Canonical Allele Identifier: CA369863683

Gene: KCNH2

Linked Data

• COSMIC: COSM4886337 ; COSM4886338
• MyVariant Identifiers: chr7:g.150656708C>A (hg19) ; chr7:g.150959620C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959620C>A , CM000669.2:g.150959620C>A	GRCh38
NC_000007.13:g.150656708C>A , CM000669.1:g.150656708C>A	GRCh37
NC_000007.12:g.150287641C>A	NCBI36
NG_008916.1:g.23307G>T , LRG_288:g.23307G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1257G>T
ENST00000262186.10:c.424G>T MANE Select	ENSP00000262186.5:p.Ala142Ser
ENST00000262186.9:c.424G>T	ENSP00000262186.5:p.Ala142Ser
ENST00000430723.4:c.234+13G>T	ENSP00000387657.4:n.234+13G>T
ENST00000532957.5:n.647G>T
NM_000238.3:c.424G>T , LRG_288t1:c.424G>T	NP_000229.1:p.Ala142Ser
NM_172056.2:c.424G>T , LRG_288t2:c.424G>T	NP_742053.1:p.Ala142Ser
XM_011516185.1:c.124G>T	XP_011514487.1:p.Ala42Ser
XM_011516186.1:c.424G>T	XP_011514488.1:p.Ala142Ser
XM_011516185.2:c.124G>T	XP_011514487.1:p.Ala42Ser
XM_011516186.3:c.424G>T	XP_011514488.1:p.Ala142Ser
XM_017012195.1:c.274G>T	XP_016867684.1:p.Ala92Ser
XM_017012196.1:c.247G>T	XP_016867685.1:p.Ala83Ser
NM_000238.4:c.424G>T MANE Select	NP_000229.1:p.Ala142Ser