Canonical Allele Identifier: CA2333849046
Gene: NPHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35845662C= , CM000681.2:g.35845662C= GRCh38
NC_000019.9:g.36336564C= , CM000681.1:g.36336564C= GRCh37
NC_000019.8:g.41028404C= NCBI36
NG_013356.2:g.28626G= , LRG_693:g.28626G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1757+7G= MANE Select ENSP00000368190.4:n.1757+7G=
ENST00000353632.6:c.1757+7G= ENSP00000343634.5:n.1757+7G=
ENST00000378910.9:c.1757+7G= ENSP00000368190.4:n.1757+7G=
NM_004646.3:c.1757+7G= , LRG_693t1:c.1757+7G= NP_004637.1:n.1757+7G=
NM_004646.4:c.1757+7G= MANE Select NP_004637.1:n.1757+7G=