Canonical Allele Identifier: CA2333847410
Gene: NPHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35842231A= , CM000681.2:g.35842231A= GRCh38
NC_000019.9:g.36333133A= , CM000681.1:g.36333133A= GRCh37
NC_000019.8:g.41024973A= NCBI36
NG_013356.2:g.32057T= , LRG_693:g.32057T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2556T= MANE Select ENSP00000368190.4:p.Ala852=
ENST00000353632.6:c.2556T= ENSP00000343634.5:p.Ala852=
ENST00000378910.9:c.2556T= ENSP00000368190.4:p.Ala852=
NM_004646.3:c.2556T= , LRG_693t1:c.2556T= NP_004637.1:p.Ala852=
NM_004646.4:c.2556T= MANE Select NP_004637.1:p.Ala852=