Canonical Allele Identifier: CA2333850685

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35848998G= , CM000681.2:g.35848998G=	GRCh38
NC_000019.9:g.36339900G= , CM000681.1:g.36339900G=	GRCh37
NC_000019.8:g.41031740G=	NCBI36
NG_013356.2:g.25290C= , LRG_693:g.25290C=
NG_051206.1:g.2364G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.990C= MANE Select	ENSP00000368190.4:p.His330=
ENST00000353632.6:c.990C=	ENSP00000343634.5:p.His330=
ENST00000378910.9:c.990C=	ENSP00000368190.4:p.His330=
NM_004646.3:c.990C= , LRG_693t1:c.990C=	NP_004637.1:p.His330=
NM_004646.4:c.990C= MANE Select	NP_004637.1:p.His330=