Canonical Allele Identifier: CA369863849

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150656784C>A (hg19) ; chr7:g.150959696C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959696C>A , CM000669.2:g.150959696C>A	GRCh38
NC_000007.13:g.150656784C>A , CM000669.1:g.150656784C>A	GRCh37
NC_000007.12:g.150287717C>A	NCBI36
NG_008916.1:g.23231G>T , LRG_288:g.23231G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1181G>T
ENST00000262186.10:c.348G>T MANE Select	ENSP00000262186.5:p.Lys116Asn
ENST00000262186.9:c.348G>T	ENSP00000262186.5:p.Lys116Asn
ENST00000430723.4:c.171G>T	ENSP00000387657.4:p.Lys57Asn
ENST00000532957.5:n.571G>T
NM_000238.3:c.348G>T , LRG_288t1:c.348G>T	NP_000229.1:p.Lys116Asn
NM_172056.2:c.348G>T , LRG_288t2:c.348G>T	NP_742053.1:p.Lys116Asn
XM_011516185.1:c.48G>T	XP_011514487.1:p.Lys16Asn
XM_011516186.1:c.348G>T	XP_011514488.1:p.Lys116Asn
XM_011516185.2:c.48G>T	XP_011514487.1:p.Lys16Asn
XM_011516186.3:c.348G>T	XP_011514488.1:p.Lys116Asn
XM_017012195.1:c.198G>T	XP_016867684.1:p.Lys66Asn
XM_017012196.1:c.171G>T	XP_016867685.1:p.Lys57Asn
NM_000238.4:c.348G>T MANE Select	NP_000229.1:p.Lys116Asn