Canonical Allele Identifier: CA2333850244
Gene: NPHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848435A= , CM000681.2:g.35848435A= GRCh38
NC_000019.9:g.36339337A= , CM000681.1:g.36339337A= GRCh37
NC_000019.8:g.41031177A= NCBI36
NG_013356.2:g.25853T= , LRG_693:g.25853T=
NG_051206.1:g.1801A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1171-38T= MANE Select ENSP00000368190.4:n.1171-38T=
ENST00000353632.6:c.1171-38T= ENSP00000343634.5:n.1171-38T=
ENST00000378910.9:c.1171-38T= ENSP00000368190.4:n.1171-38T=
ENST00000592132.1:n.178-38T=
NM_004646.3:c.1171-38T= , LRG_693t1:c.1171-38T= NP_004637.1:n.1171-38T=
NM_004646.4:c.1171-38T= MANE Select NP_004637.1:n.1171-38T=