Canonical Allele Identifier: CA405404583
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs752273821

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848160C>G , CM000681.2:g.35848160C>G GRCh38
NC_000019.9:g.36339062C>G , CM000681.1:g.36339062C>G GRCh37
NC_000019.8:g.41030902C>G NCBI36
NG_013356.2:g.26128G>C , LRG_693:g.26128G>C
NG_051206.1:g.1526C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1321G>C MANE Select ENSP00000368190.4:p.Ala441Pro
ENST00000353632.6:c.1321G>C ENSP00000343634.5:p.Ala441Pro
ENST00000378910.9:c.1321G>C ENSP00000368190.4:p.Ala441Pro
ENST00000592132.1:n.328G>C
NM_004646.3:c.1321G>C , LRG_693t1:c.1321G>C NP_004637.1:p.Ala441Pro
NM_004646.4:c.1321G>C MANE Select NP_004637.1:p.Ala441Pro