Canonical Allele Identifier: CA632775042
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs770370361

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826668A>C , CM000681.2:g.35826668A>C GRCh38
NC_000019.9:g.36317570A>C , CM000681.1:g.36317570A>C GRCh37
NC_000019.8:g.41009410A>C NCBI36
NG_013356.2:g.47620T>G , LRG_693:g.47620T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.3595-23T>G MANE Select ENSP00000368190.4:n.3595-23T>G
ENST00000353632.6:c.3475-23T>G ENSP00000343634.5:n.3475-23T>G
ENST00000378910.9:c.3595-23T>G ENSP00000368190.4:n.3595-23T>G
NM_004646.3:c.3595-23T>G , LRG_693t1:c.3595-23T>G NP_004637.1:n.3595-23T>G
NM_004646.4:c.3595-23T>G MANE Select NP_004637.1:n.3595-23T>G