Canonical Allele Identifier: CA405400129
Gene: NPHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35846020G>T , CM000681.2:g.35846020G>T GRCh38
NC_000019.9:g.36336922G>T , CM000681.1:g.36336922G>T GRCh37
NC_000019.8:g.41028762G>T NCBI36
NG_013356.2:g.28268C>A , LRG_693:g.28268C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1615C>A MANE Select ENSP00000368190.4:p.Leu539Met
ENST00000353632.6:c.1615C>A ENSP00000343634.5:p.Leu539Met
ENST00000378910.9:c.1615C>A ENSP00000368190.4:p.Leu539Met
NM_004646.3:c.1615C>A , LRG_693t1:c.1615C>A NP_004637.1:p.Leu539Met
NM_004646.4:c.1615C>A MANE Select NP_004637.1:p.Leu539Met