Canonical Allele Identifier: CA2333851605

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35850976T= , CM000681.2:g.35850976T=	GRCh38
NC_000019.9:g.36341878T= , CM000681.1:g.36341878T=	GRCh37
NC_000019.8:g.41033718T=	NCBI36
NG_013356.2:g.23312A= , LRG_693:g.23312A=
NG_051206.1:g.4342T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000378910.10:c.511A= MANE Select	ENSP00000368190.4:p.Ile171=
ENST00000353632.6:c.511A=	ENSP00000343634.5:p.Ile171=
ENST00000378910.9:c.511A=	ENSP00000368190.4:p.Ile171=
NM_004646.3:c.511A= , LRG_693t1:c.511A=	NP_004637.1:p.Ile171=
NM_004646.4:c.511A= MANE Select	NP_004637.1:p.Ile171=