Canonical Allele Identifier: CA881817111
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1333996482

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826699A>G , CM000681.2:g.35826699A>G GRCh38
NC_000019.9:g.36317601A>G , CM000681.1:g.36317601A>G GRCh37
NC_000019.8:g.41009441A>G NCBI36
NG_013356.2:g.47589T>C , LRG_693:g.47589T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.3595-54T>C MANE Select ENSP00000368190.4:n.3595-54T>C
ENST00000353632.6:c.3475-54T>C ENSP00000343634.5:n.3475-54T>C
ENST00000378910.9:c.3595-54T>C ENSP00000368190.4:n.3595-54T>C
NM_004646.3:c.3595-54T>C , LRG_693t1:c.3595-54T>C NP_004637.1:n.3595-54T>C
NM_004646.4:c.3595-54T>C MANE Select NP_004637.1:n.3595-54T>C