Canonical Allele Identifier: CA369863619

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150656674C>T (hg19) ; chr7:g.150959586C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959586C>T , CM000669.2:g.150959586C>T	GRCh38
NC_000007.13:g.150656674C>T , CM000669.1:g.150656674C>T	GRCh37
NC_000007.12:g.150287607C>T	NCBI36
NG_008916.1:g.23341G>A , LRG_288:g.23341G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1291G>A
ENST00000262186.10:c.458G>A MANE Select	ENSP00000262186.5:p.Ser153Asn
ENST00000262186.9:c.458G>A	ENSP00000262186.5:p.Ser153Asn
ENST00000430723.4:c.234+47G>A	ENSP00000387657.4:n.234+47G>A
ENST00000532957.5:n.681G>A
NM_000238.3:c.458G>A , LRG_288t1:c.458G>A	NP_000229.1:p.Ser153Asn
NM_172056.2:c.458G>A , LRG_288t2:c.458G>A	NP_742053.1:p.Ser153Asn
XM_011516185.1:c.158G>A	XP_011514487.1:p.Ser53Asn
XM_011516186.1:c.458G>A	XP_011514488.1:p.Ser153Asn
XM_011516185.2:c.158G>A	XP_011514487.1:p.Ser53Asn
XM_011516186.3:c.458G>A	XP_011514488.1:p.Ser153Asn
XM_017012195.1:c.308G>A	XP_016867684.1:p.Ser103Asn
XM_017012196.1:c.281G>A	XP_016867685.1:p.Ser94Asn
NM_000238.4:c.458G>A MANE Select	NP_000229.1:p.Ser153Asn