Canonical Allele Identifier: CA2333846094

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35839504G= , CM000681.2:g.35839504G=	GRCh38
NC_000019.9:g.36330406G= , CM000681.1:g.36330406G=	GRCh37
NC_000019.8:g.41022246G=	NCBI36
NG_013356.2:g.34784C= , LRG_693:g.34784C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000378910.10:c.2919C= MANE Select	ENSP00000368190.4:p.Phe973=
ENST00000353632.6:c.2919C=	ENSP00000343634.5:p.Phe973=
ENST00000378910.9:c.2919C=	ENSP00000368190.4:p.Phe973=
NM_004646.3:c.2919C= , LRG_693t1:c.2919C=	NP_004637.1:p.Phe973=
NM_004646.4:c.2919C= MANE Select	NP_004637.1:p.Phe973=