Canonical Allele Identifier: CA405400185
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1357877707

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35846047C>T , CM000681.2:g.35846047C>T GRCh38
NC_000019.9:g.36336949C>T , CM000681.1:g.36336949C>T GRCh37
NC_000019.8:g.41028789C>T NCBI36
NG_013356.2:g.28241G>A , LRG_693:g.28241G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1588G>A MANE Select ENSP00000368190.4:p.Ala530Thr
ENST00000353632.6:c.1588G>A ENSP00000343634.5:p.Ala530Thr
ENST00000378910.9:c.1588G>A ENSP00000368190.4:p.Ala530Thr
NM_004646.3:c.1588G>A , LRG_693t1:c.1588G>A NP_004637.1:p.Ala530Thr
NM_004646.4:c.1588G>A MANE Select NP_004637.1:p.Ala530Thr