Canonical Allele Identifier: CA995489143
Gene: NPHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826650C>A , CM000681.2:g.35826650C>A GRCh38
NC_000019.9:g.36317552C>A , CM000681.1:g.36317552C>A GRCh37
NC_000019.8:g.41009392C>A NCBI36
NG_013356.2:g.47638G>T , LRG_693:g.47638G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.3595-5G>T MANE Select ENSP00000368190.4:n.3595-5G>T
ENST00000353632.6:c.3475-5G>T ENSP00000343634.5:n.3475-5G>T
ENST00000378910.9:c.3595-5G>T ENSP00000368190.4:n.3595-5G>T
NM_004646.3:c.3595-5G>T , LRG_693t1:c.3595-5G>T NP_004637.1:n.3595-5G>T
NM_004646.4:c.3595-5G>T MANE Select NP_004637.1:n.3595-5G>T