Canonical Allele Identifier: CA2333851607
Gene: NPHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35850982G= , CM000681.2:g.35850982G= GRCh38
NC_000019.9:g.36341884G= , CM000681.1:g.36341884G= GRCh37
NC_000019.8:g.41033724G= NCBI36
NG_013356.2:g.23306C= , LRG_693:g.23306C=
NG_051206.1:g.4348G=

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.505C= MANE Select ENSP00000368190.4:p.Pro169=
ENST00000353632.6:c.505C= ENSP00000343634.5:p.Pro169=
ENST00000378910.9:c.505C= ENSP00000368190.4:p.Pro169=
NM_004646.3:c.505C= , LRG_693t1:c.505C= NP_004637.1:p.Pro169=
NM_004646.4:c.505C= MANE Select NP_004637.1:p.Pro169=