Canonical Allele Identifier: CA2333847459

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35842327G= , CM000681.2:g.35842327G=	GRCh38
NC_000019.9:g.36333229G= , CM000681.1:g.36333229G=	GRCh37
NC_000019.8:g.41025069G=	NCBI36
NG_013356.2:g.31961C= , LRG_693:g.31961C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.2507-47C= MANE Select	ENSP00000368190.4:n.2507-47C=
ENST00000353632.6:c.2507-47C=	ENSP00000343634.5:n.2507-47C=
ENST00000378910.9:c.2507-47C=	ENSP00000368190.4:n.2507-47C=
NM_004646.3:c.2507-47C= , LRG_693t1:c.2507-47C=	NP_004637.1:n.2507-47C=
NM_004646.4:c.2507-47C= MANE Select	NP_004637.1:n.2507-47C=