Canonical Allele Identifier: CA405415218

Gene: NPHS1

Linked Data

• MyVariant Identifiers: chr19:g.36317529A>T (hg19) ; chr19:g.35826627A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35826627A>T , CM000681.2:g.35826627A>T	GRCh38
NC_000019.9:g.36317529A>T , CM000681.1:g.36317529A>T	GRCh37
NC_000019.8:g.41009369A>T	NCBI36
NG_013356.2:g.47661T>A , LRG_693:g.47661T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.3613T>A MANE Select	ENSP00000368190.4:p.Trp1205Arg
ENST00000353632.6:c.3493T>A	ENSP00000343634.5:p.Trp1165Arg
ENST00000378910.9:c.3613T>A	ENSP00000368190.4:p.Trp1205Arg
NM_004646.3:c.3613T>A , LRG_693t1:c.3613T>A	NP_004637.1:p.Trp1205Arg
NM_004646.4:c.3613T>A MANE Select	NP_004637.1:p.Trp1205Arg