Canonical Allele Identifier: CA405408336
Gene: NPHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849613A>T , CM000681.2:g.35849613A>T GRCh38
NC_000019.9:g.36340515A>T , CM000681.1:g.36340515A>T GRCh37
NC_000019.8:g.41032355A>T NCBI36
NG_013356.2:g.24675T>A , LRG_693:g.24675T>A
NG_051206.1:g.2979A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.649T>A MANE Select ENSP00000368190.4:p.Cys217Ser
ENST00000353632.6:c.649T>A ENSP00000343634.5:p.Cys217Ser
ENST00000378910.9:c.649T>A ENSP00000368190.4:p.Cys217Ser
NM_004646.3:c.649T>A , LRG_693t1:c.649T>A NP_004637.1:p.Cys217Ser
NM_004646.4:c.649T>A MANE Select NP_004637.1:p.Cys217Ser