Canonical Allele Identifier: CA2333850958
Gene: NPHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849558T= , CM000681.2:g.35849558T= GRCh38
NC_000019.9:g.36340460T= , CM000681.1:g.36340460T= GRCh37
NC_000019.8:g.41032300T= NCBI36
NG_013356.2:g.24730A= , LRG_693:g.24730A=
NG_051206.1:g.2924T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.704A= MANE Select ENSP00000368190.4:p.Asn235=
ENST00000353632.6:c.704A= ENSP00000343634.5:p.Asn235=
ENST00000378910.9:c.704A= ENSP00000368190.4:p.Asn235=
NM_004646.3:c.704A= , LRG_693t1:c.704A= NP_004637.1:p.Asn235=
NM_004646.4:c.704A= MANE Select NP_004637.1:p.Asn235=