Canonical Allele Identifier: CA2333840018

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35826552C= , CM000681.2:g.35826552C=	GRCh38
NC_000019.9:g.36317454C= , CM000681.1:g.36317454C=	GRCh37
NC_000019.8:g.41009294C=	NCBI36
NG_013356.2:g.47736G= , LRG_693:g.47736G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000378910.10:c.3688G= MANE Select	ENSP00000368190.4:p.Asp1230=
ENST00000353632.6:c.3568G=	ENSP00000343634.5:p.Asp1190=
ENST00000378910.9:c.3688G=	ENSP00000368190.4:p.Asp1230=
NM_004646.3:c.3688G= , LRG_693t1:c.3688G=	NP_004637.1:p.Asp1230=
NM_004646.4:c.3688G= MANE Select	NP_004637.1:p.Asp1230=