Canonical Allele Identifier: CA2333850805

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35849249A= , CM000681.2:g.35849249A=	GRCh38
NC_000019.9:g.36340151A= , CM000681.1:g.36340151A=	GRCh37
NC_000019.8:g.41031991A=	NCBI36
NG_013356.2:g.25039T= , LRG_693:g.25039T=
NG_051206.1:g.2615A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.827T= MANE Select	ENSP00000368190.4:p.Leu276=
ENST00000353632.6:c.827T=	ENSP00000343634.5:p.Leu276=
ENST00000378910.9:c.827T=	ENSP00000368190.4:p.Leu276=
NM_004646.3:c.827T= , LRG_693t1:c.827T=	NP_004637.1:p.Leu276=
NM_004646.4:c.827T= MANE Select	NP_004637.1:p.Leu276=