Canonical Allele Identifier: CA2333851608
Gene: NPHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35850983T= , CM000681.2:g.35850983T= GRCh38
NC_000019.9:g.36341885T= , CM000681.1:g.36341885T= GRCh37
NC_000019.8:g.41033725T= NCBI36
NG_013356.2:g.23305A= , LRG_693:g.23305A=
NG_051206.1:g.4349T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.504A= MANE Select ENSP00000368190.4:p.Ala168=
ENST00000353632.6:c.504A= ENSP00000343634.5:p.Ala168=
ENST00000378910.9:c.504A= ENSP00000368190.4:p.Ala168=
NM_004646.3:c.504A= , LRG_693t1:c.504A= NP_004637.1:p.Ala168=
NM_004646.4:c.504A= MANE Select NP_004637.1:p.Ala168=