Canonical Allele Identifier: CA2752941700
Gene: KCNH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162435459_162435523del , CM000664.2:g.162435459_162435523del GRCh38
NC_000002.11:g.163291969_163292033del , CM000664.1:g.163291969_163292033del GRCh37
NC_000002.10:g.163000215_163000279del NCBI36
NG_041938.1:g.408225_408289del

Transcript Alleles

HGVS Amino-acid Change
ENST00000332142.10:c.1629_1693del MANE Select ENSP00000331727.5:p.Tyr544AlafsTer18
ENST00000328032.8:c.1608_1672del ENSP00000333781.4:p.Tyr537AlafsTer18
ENST00000332142.9:c.1629_1693del ENSP00000331727.5:p.Tyr544AlafsTer18
ENST00000618399.4:c.1329_1393del ENSP00000482818.1:p.Tyr444AlafsTer18
ENST00000621889.1:c.1302_1366del ENSP00000483158.1:p.Tyr435AlafsTer18
NM_033272.3:c.1629_1693del NP_150375.2:p.Tyr544AlafsTer18
NM_173162.2:c.1608_1672del NP_775185.1:p.Tyr537AlafsTer18
XM_011512109.1:c.1653_1717del XP_011510411.1:p.Tyr552AlafsTer18
XM_011512109.3:c.1653_1717del XP_011510411.1:p.Tyr552AlafsTer18
XM_017005218.2:c.1653_1717del XP_016860707.1:p.Tyr552AlafsTer18
XM_017005219.2:c.1629_1693del XP_016860708.1:p.Tyr544AlafsTer18
XM_017005220.2:c.1608_1672del XP_016860709.1:p.Tyr537AlafsTer18
XM_017005221.2:c.1653_1717del XP_016860710.1:p.Tyr552AlafsTer18
NM_033272.4:c.1629_1693del MANE Select NP_150375.2:p.Tyr544AlafsTer18
NM_173162.3:c.1608_1672del NP_775185.1:p.Tyr537AlafsTer18