Canonical Allele Identifier: CA2333851543
Gene: NPHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35850816C= , CM000681.2:g.35850816C= GRCh38
NC_000019.9:g.36341718C= , CM000681.1:g.36341718C= GRCh37
NC_000019.8:g.41033558C= NCBI36
NG_013356.2:g.23472G= , LRG_693:g.23472G=
NG_051206.1:g.4182C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.526+145G= MANE Select ENSP00000368190.4:n.526+145G=
ENST00000353632.6:c.526+145G= ENSP00000343634.5:n.526+145G=
ENST00000378910.9:c.526+145G= ENSP00000368190.4:n.526+145G=
NM_004646.3:c.526+145G= , LRG_693t1:c.526+145G= NP_004637.1:n.526+145G=
NM_004646.4:c.526+145G= MANE Select NP_004637.1:n.526+145G=