Canonical Allele Identifier: CA2333850979
Gene: NPHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849607C= , CM000681.2:g.35849607C= GRCh38
NC_000019.9:g.36340509C= , CM000681.1:g.36340509C= GRCh37
NC_000019.8:g.41032349C= NCBI36
NG_013356.2:g.24681G= , LRG_693:g.24681G=
NG_051206.1:g.2973C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.655G= MANE Select ENSP00000368190.4:p.Ala219=
ENST00000353632.6:c.655G= ENSP00000343634.5:p.Ala219=
ENST00000378910.9:c.655G= ENSP00000368190.4:p.Ala219=
NM_004646.3:c.655G= , LRG_693t1:c.655G= NP_004637.1:p.Ala219=
NM_004646.4:c.655G= MANE Select NP_004637.1:p.Ala219=