Canonical Allele Identifier: CA2333851618
Gene: NPHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35851002G= , CM000681.2:g.35851002G= GRCh38
NC_000019.9:g.36341904G= , CM000681.1:g.36341904G= GRCh37
NC_000019.8:g.41033744G= NCBI36
NG_013356.2:g.23286C= , LRG_693:g.23286C=
NG_051206.1:g.4368G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.485C= MANE Select ENSP00000368190.4:p.Ser162=
ENST00000353632.6:c.485C= ENSP00000343634.5:p.Ser162=
ENST00000378910.9:c.485C= ENSP00000368190.4:p.Ser162=
NM_004646.3:c.485C= , LRG_693t1:c.485C= NP_004637.1:p.Ser162=
NM_004646.4:c.485C= MANE Select NP_004637.1:p.Ser162=