Canonical Allele Identifier: CA369861426

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150654388C>G (hg19) ; chr7:g.150957300C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957300C>G , CM000669.2:g.150957300C>G	GRCh38
NC_000007.13:g.150654388C>G , CM000669.1:g.150654388C>G	GRCh37
NC_000007.12:g.150285321C>G	NCBI36
NG_008916.1:g.25627G>C , LRG_288:g.25627G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1952G>C
ENST00000262186.10:c.1119G>C MANE Select	ENSP00000262186.5:p.Lys373Asn
ENST00000262186.9:c.1119G>C	ENSP00000262186.5:p.Lys373Asn
ENST00000430723.4:c.771G>C	ENSP00000387657.4:p.Lys257Asn
ENST00000532957.5:n.1342G>C
NM_000238.3:c.1119G>C , LRG_288t1:c.1119G>C	NP_000229.1:p.Lys373Asn
NM_172056.2:c.1119G>C , LRG_288t2:c.1119G>C	NP_742053.1:p.Lys373Asn
XM_011516185.1:c.819G>C	XP_011514487.1:p.Lys273Asn
XM_011516186.1:c.1119G>C	XP_011514488.1:p.Lys373Asn
XM_011516185.2:c.819G>C	XP_011514487.1:p.Lys273Asn
XM_011516186.3:c.1119G>C	XP_011514488.1:p.Lys373Asn
XM_017012195.1:c.969G>C	XP_016867684.1:p.Lys323Asn
XM_017012196.1:c.942G>C	XP_016867685.1:p.Lys314Asn
NM_000238.4:c.1119G>C MANE Select	NP_000229.1:p.Lys373Asn