Canonical Allele Identifier: CA2333850450

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35848090A= , CM000681.2:g.35848090A=	GRCh38
NC_000019.9:g.36338992A= , CM000681.1:g.36338992A=	GRCh37
NC_000019.8:g.41030832A=	NCBI36
NG_013356.2:g.26198T= , LRG_693:g.26198T=
NG_051206.1:g.1456A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000378910.10:c.1391T= MANE Select	ENSP00000368190.4:p.Val464=
ENST00000353632.6:c.1391T=	ENSP00000343634.5:p.Val464=
ENST00000378910.9:c.1391T=	ENSP00000368190.4:p.Val464=
ENST00000592132.1:n.398T=
NM_004646.3:c.1391T= , LRG_693t1:c.1391T=	NP_004637.1:p.Val464=
NM_004646.4:c.1391T= MANE Select	NP_004637.1:p.Val464=