Canonical Allele Identifier: CA405415102
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 889500
ClinVar RCV Id: RCV001123447
dbSNP Id: rs1350146301

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826573C>T , CM000681.2:g.35826573C>T GRCh38
NC_000019.9:g.36317475C>T , CM000681.1:g.36317475C>T GRCh37
NC_000019.8:g.41009315C>T NCBI36
NG_013356.2:g.47715G>A , LRG_693:g.47715G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.3667G>A MANE Select ENSP00000368190.4:p.Asp1223Asn
ENST00000353632.6:c.3547G>A ENSP00000343634.5:p.Asp1183Asn
ENST00000378910.9:c.3667G>A ENSP00000368190.4:p.Asp1223Asn
NM_004646.3:c.3667G>A , LRG_693t1:c.3667G>A NP_004637.1:p.Asp1223Asn
NM_004646.4:c.3667G>A MANE Select NP_004637.1:p.Asp1223Asn