Canonical Allele Identifier: CA2333840019

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35826553G= , CM000681.2:g.35826553G=	GRCh38
NC_000019.9:g.36317455G= , CM000681.1:g.36317455G=	GRCh37
NC_000019.8:g.41009295G=	NCBI36
NG_013356.2:g.47735C= , LRG_693:g.47735C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.3687C= MANE Select	ENSP00000368190.4:p.Pro1229=
ENST00000353632.6:c.3567C=	ENSP00000343634.5:p.Pro1189=
ENST00000378910.9:c.3687C=	ENSP00000368190.4:p.Pro1229=
NM_004646.3:c.3687C= , LRG_693t1:c.3687C=	NP_004637.1:p.Pro1229=
NM_004646.4:c.3687C= MANE Select	NP_004637.1:p.Pro1229=