Canonical Allele Identifier: CA405406997
Gene: NPHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849240A>G , CM000681.2:g.35849240A>G GRCh38
NC_000019.9:g.36340142A>G , CM000681.1:g.36340142A>G GRCh37
NC_000019.8:g.41031982A>G NCBI36
NG_013356.2:g.25048T>C , LRG_693:g.25048T>C
NG_051206.1:g.2606A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.836T>C MANE Select ENSP00000368190.4:p.Leu279Pro
ENST00000353632.6:c.836T>C ENSP00000343634.5:p.Leu279Pro
ENST00000378910.9:c.836T>C ENSP00000368190.4:p.Leu279Pro
NM_004646.3:c.836T>C , LRG_693t1:c.836T>C NP_004637.1:p.Leu279Pro
NM_004646.4:c.836T>C MANE Select NP_004637.1:p.Leu279Pro