Canonical Allele Identifier: CA405399674
Gene: NPHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35845696T>G , CM000681.2:g.35845696T>G GRCh38
NC_000019.9:g.36336598T>G , CM000681.1:g.36336598T>G GRCh37
NC_000019.8:g.41028438T>G NCBI36
NG_013356.2:g.28592A>C , LRG_693:g.28592A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1730A>C MANE Select ENSP00000368190.4:p.Asn577Thr
ENST00000353632.6:c.1730A>C ENSP00000343634.5:p.Asn577Thr
ENST00000378910.9:c.1730A>C ENSP00000368190.4:p.Asn577Thr
NM_004646.3:c.1730A>C , LRG_693t1:c.1730A>C NP_004637.1:p.Asn577Thr
NM_004646.4:c.1730A>C MANE Select NP_004637.1:p.Asn577Thr