Canonical Allele Identifier: CA2333847197
Gene: NPHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35841757C= , CM000681.2:g.35841757C= GRCh38
NC_000019.9:g.36332659C= , CM000681.1:g.36332659C= GRCh37
NC_000019.8:g.41024499C= NCBI36
NG_013356.2:g.32531G= , LRG_693:g.32531G=

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.2773G= MANE Select ENSP00000368190.4:p.Ala925=
ENST00000353632.6:c.2773G= ENSP00000343634.5:p.Ala925=
ENST00000378910.9:c.2773G= ENSP00000368190.4:p.Ala925=
NM_004646.3:c.2773G= , LRG_693t1:c.2773G= NP_004637.1:p.Ala925=
NM_004646.4:c.2773G= MANE Select NP_004637.1:p.Ala925=