Canonical Allele Identifier: CA405404472
Gene: NPHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848148A>G , CM000681.2:g.35848148A>G GRCh38
NC_000019.9:g.36339050A>G , CM000681.1:g.36339050A>G GRCh37
NC_000019.8:g.41030890A>G NCBI36
NG_013356.2:g.26140T>C , LRG_693:g.26140T>C
NG_051206.1:g.1514A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1333T>C MANE Select ENSP00000368190.4:p.Trp445Arg
ENST00000353632.6:c.1333T>C ENSP00000343634.5:p.Trp445Arg
ENST00000378910.9:c.1333T>C ENSP00000368190.4:p.Trp445Arg
ENST00000592132.1:n.340T>C
NM_004646.3:c.1333T>C , LRG_693t1:c.1333T>C NP_004637.1:p.Trp445Arg
NM_004646.4:c.1333T>C MANE Select NP_004637.1:p.Trp445Arg