Canonical Allele Identifier: CA2333839548
Gene: NPHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826700T= , CM000681.2:g.35826700T= GRCh38
NC_000019.9:g.36317602T= , CM000681.1:g.36317602T= GRCh37
NC_000019.8:g.41009442T= NCBI36
NG_013356.2:g.47588A= , LRG_693:g.47588A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.3595-55A= MANE Select ENSP00000368190.4:n.3595-55A=
ENST00000353632.6:c.3475-55A= ENSP00000343634.5:n.3475-55A=
ENST00000378910.9:c.3595-55A= ENSP00000368190.4:n.3595-55A=
NM_004646.3:c.3595-55A= , LRG_693t1:c.3595-55A= NP_004637.1:n.3595-55A=
NM_004646.4:c.3595-55A= MANE Select NP_004637.1:n.3595-55A=