Canonical Allele Identifier: CA2700909896
Gene: KCNH7 HGNC NCBI

Linked Data

dbSNP Id: rs2105521684

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162435403_162435404del , CM000664.2:g.162435403_162435404del GRCh38
NC_000002.11:g.163291913_163291914del , CM000664.1:g.163291913_163291914del GRCh37
NC_000002.10:g.163000159_163000160del NCBI36
NG_041938.1:g.408345_408346del

Transcript Alleles

HGVS Amino-acid Change
ENST00000332142.10:c.1749_1750del MANE Select ENSP00000331727.5:p.Asp583GlufsTer18
ENST00000328032.8:c.1728_1729del ENSP00000333781.4:p.Asp576GlufsTer18
ENST00000332142.9:c.1749_1750del ENSP00000331727.5:p.Asp583GlufsTer18
ENST00000618399.4:c.1449_1450del ENSP00000482818.1:p.Asp483GlufsTer18
ENST00000621889.1:c.1422_1423del ENSP00000483158.1:p.Asp474GlufsTer18
NM_033272.3:c.1749_1750del NP_150375.2:p.Asp583GlufsTer18
NM_173162.2:c.1728_1729del NP_775185.1:p.Asp576GlufsTer18
XM_011512109.1:c.1773_1774del XP_011510411.1:p.Asp591GlufsTer18
XM_011512109.3:c.1773_1774del XP_011510411.1:p.Asp591GlufsTer18
XM_017005218.2:c.1773_1774del XP_016860707.1:p.Asp591GlufsTer18
XM_017005219.2:c.1749_1750del XP_016860708.1:p.Asp583GlufsTer18
XM_017005220.2:c.1728_1729del XP_016860709.1:p.Asp576GlufsTer18
XM_017005221.2:c.1773_1774del XP_016860710.1:p.Asp591GlufsTer18
NM_033272.4:c.1749_1750del MANE Select NP_150375.2:p.Asp583GlufsTer18
NM_173162.3:c.1728_1729del NP_775185.1:p.Asp576GlufsTer18