Canonical Allele Identifier: CA2333851612

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35850989C= , CM000681.2:g.35850989C=	GRCh38
NC_000019.9:g.36341891C= , CM000681.1:g.36341891C=	GRCh37
NC_000019.8:g.41033731C=	NCBI36
NG_013356.2:g.23299G= , LRG_693:g.23299G=
NG_051206.1:g.4355C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.498G= MANE Select	ENSP00000368190.4:p.Lys166=
ENST00000353632.6:c.498G=	ENSP00000343634.5:p.Lys166=
ENST00000378910.9:c.498G=	ENSP00000368190.4:p.Lys166=
NM_004646.3:c.498G= , LRG_693t1:c.498G=	NP_004637.1:p.Lys166=
NM_004646.4:c.498G= MANE Select	NP_004637.1:p.Lys166=