Canonical Allele Identifier: CA369863704

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150656720C>A (hg19) ; chr7:g.150959632C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959632C>A , CM000669.2:g.150959632C>A	GRCh38
NC_000007.13:g.150656720C>A , CM000669.1:g.150656720C>A	GRCh37
NC_000007.12:g.150287653C>A	NCBI36
NG_008916.1:g.23295G>T , LRG_288:g.23295G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1245G>T
ENST00000262186.10:c.412G>T MANE Select	ENSP00000262186.5:p.Val138Leu
ENST00000262186.9:c.412G>T	ENSP00000262186.5:p.Val138Leu
ENST00000430723.4:c.234+1G>T	ENSP00000387657.4:n.234+1G>T
ENST00000532957.5:n.635G>T
NM_000238.3:c.412G>T , LRG_288t1:c.412G>T	NP_000229.1:p.Val138Leu
NM_172056.2:c.412G>T , LRG_288t2:c.412G>T	NP_742053.1:p.Val138Leu
XM_011516185.1:c.112G>T	XP_011514487.1:p.Val38Leu
XM_011516186.1:c.412G>T	XP_011514488.1:p.Val138Leu
XM_011516185.2:c.112G>T	XP_011514487.1:p.Val38Leu
XM_011516186.3:c.412G>T	XP_011514488.1:p.Val138Leu
XM_017012195.1:c.262G>T	XP_016867684.1:p.Val88Leu
XM_017012196.1:c.235G>T	XP_016867685.1:p.Val79Leu
NM_000238.4:c.412G>T MANE Select	NP_000229.1:p.Val138Leu