Canonical Allele Identifier: CA369863849
Gene: KCNH2 HGNC NCBI

Linked Data

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