Canonical Allele Identifier: CA2333849259

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35846039C= , CM000681.2:g.35846039C=	GRCh38
NC_000019.9:g.36336941C= , CM000681.1:g.36336941C=	GRCh37
NC_000019.8:g.41028781C=	NCBI36
NG_013356.2:g.28249G= , LRG_693:g.28249G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1596G= MANE Select	ENSP00000368190.4:p.Gln532=
ENST00000353632.6:c.1596G=	ENSP00000343634.5:p.Gln532=
ENST00000378910.9:c.1596G=	ENSP00000368190.4:p.Gln532=
NM_004646.3:c.1596G= , LRG_693t1:c.1596G=	NP_004637.1:p.Gln532=
NM_004646.4:c.1596G= MANE Select	NP_004637.1:p.Gln532=