Canonical Allele Identifier: CA405392007
Gene: NPHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35842241A>T , CM000681.2:g.35842241A>T GRCh38
NC_000019.9:g.36333143A>T , CM000681.1:g.36333143A>T GRCh37
NC_000019.8:g.41024983A>T NCBI36
NG_013356.2:g.32047T>A , LRG_693:g.32047T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2546T>A MANE Select ENSP00000368190.4:p.Val849Glu
ENST00000353632.6:c.2546T>A ENSP00000343634.5:p.Val849Glu
ENST00000378910.9:c.2546T>A ENSP00000368190.4:p.Val849Glu
NM_004646.3:c.2546T>A , LRG_693t1:c.2546T>A NP_004637.1:p.Val849Glu
NM_004646.4:c.2546T>A MANE Select NP_004637.1:p.Val849Glu