Canonical Allele Identifier: CA2333850947
Gene: NPHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849521C= , CM000681.2:g.35849521C= GRCh38
NC_000019.9:g.36340423C= , CM000681.1:g.36340423C= GRCh37
NC_000019.8:g.41032263C= NCBI36
NG_013356.2:g.24767G= , LRG_693:g.24767G=
NG_051206.1:g.2887C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.712+29G= MANE Select ENSP00000368190.4:n.712+29G=
ENST00000353632.6:c.712+29G= ENSP00000343634.5:n.712+29G=
ENST00000378910.9:c.712+29G= ENSP00000368190.4:n.712+29G=
NM_004646.3:c.712+29G= , LRG_693t1:c.712+29G= NP_004637.1:n.712+29G=
NM_004646.4:c.712+29G= MANE Select NP_004637.1:n.712+29G=