Canonical Allele Identifier: CA2333850296

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35847810T= , CM000681.2:g.35847810T=	GRCh38
NC_000019.9:g.36338712T= , CM000681.1:g.36338712T=	GRCh37
NC_000019.8:g.41030552T=	NCBI36
NG_013356.2:g.26478A= , LRG_693:g.26478A=
NG_051206.1:g.1176T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1440+231A= MANE Select	ENSP00000368190.4:n.1440+231A=
ENST00000353632.6:c.1440+231A=	ENSP00000343634.5:n.1440+231A=
ENST00000378910.9:c.1440+231A=	ENSP00000368190.4:n.1440+231A=
NM_004646.3:c.1440+231A= , LRG_693t1:c.1440+231A=	NP_004637.1:n.1440+231A=
NM_004646.4:c.1440+231A= MANE Select	NP_004637.1:n.1440+231A=