Canonical Allele Identifier: CA349221283
Gene: KCNH7 HGNC NCBI

Linked Data

dbSNP Id: rs772415826

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162435483A>T , CM000664.2:g.162435483A>T GRCh38
NC_000002.11:g.163291993A>T , CM000664.1:g.163291993A>T GRCh37
NC_000002.10:g.163000239A>T NCBI36
NG_041938.1:g.408265T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000332142.10:c.1669T>A MANE Select ENSP00000331727.5:p.Cys557Ser
ENST00000328032.8:c.1648T>A ENSP00000333781.4:p.Cys550Ser
ENST00000332142.9:c.1669T>A ENSP00000331727.5:p.Cys557Ser
ENST00000618399.4:c.1369T>A ENSP00000482818.1:p.Cys457Ser
ENST00000621889.1:c.1342T>A ENSP00000483158.1:p.Cys448Ser
NM_033272.3:c.1669T>A NP_150375.2:p.Cys557Ser
NM_173162.2:c.1648T>A NP_775185.1:p.Cys550Ser
XM_011512109.1:c.1693T>A XP_011510411.1:p.Cys565Ser
XM_011512109.3:c.1693T>A XP_011510411.1:p.Cys565Ser
XM_017005218.2:c.1693T>A XP_016860707.1:p.Cys565Ser
XM_017005219.2:c.1669T>A XP_016860708.1:p.Cys557Ser
XM_017005220.2:c.1648T>A XP_016860709.1:p.Cys550Ser
XM_017005221.2:c.1693T>A XP_016860710.1:p.Cys565Ser
NM_033272.4:c.1669T>A MANE Select NP_150375.2:p.Cys557Ser
NM_173162.3:c.1648T>A NP_775185.1:p.Cys550Ser