Canonical Allele Identifier: CA250163

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35844347C>A , CM000681.2:g.35844347C>A	GRCh38
NC_000019.9:g.36335249C>A , CM000681.1:g.36335249C>A	GRCh37
NC_000019.8:g.41027089C>A	NCBI36
NG_013356.2:g.29941G>T , LRG_693:g.29941G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004646.4:c.2043G>T MANE Select	NP_004637.1:p.Trp681Cys
ENST00000378910.10:c.2043G>T MANE Select	ENSP00000368190.4:p.Trp681Cys
NM_004646.3:c.2043G>T , LRG_693t1:c.2043G>T	NP_004637.1:p.Trp681Cys
ENST00000353632.6:c.2043G>T	ENSP00000343634.5:p.Trp681Cys
ENST00000378910.9:c.2043G>T	ENSP00000368190.4:p.Trp681Cys
ENST00000585400.1:n.225G>T