Canonical Allele Identifier: CA405415198
Gene: NPHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826619T>A , CM000681.2:g.35826619T>A GRCh38
NC_000019.9:g.36317521T>A , CM000681.1:g.36317521T>A GRCh37
NC_000019.8:g.41009361T>A NCBI36
NG_013356.2:g.47669A>T , LRG_693:g.47669A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.3621A>T MANE Select ENSP00000368190.4:p.Glu1207Asp
ENST00000353632.6:c.3501A>T ENSP00000343634.5:p.Glu1167Asp
ENST00000378910.9:c.3621A>T ENSP00000368190.4:p.Glu1207Asp
NM_004646.3:c.3621A>T , LRG_693t1:c.3621A>T NP_004637.1:p.Glu1207Asp
NM_004646.4:c.3621A>T MANE Select NP_004637.1:p.Glu1207Asp