Canonical Allele Identifier: CA657129122
Gene: NPHS1 HGNC NCBI

Linked Data

gnomAD v4: 19-35850888-G-T
COSMIC: COSN1214838 COSN5760171
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35850888G>T , CM000681.2:g.35850888G>T GRCh38
NC_000019.9:g.36341790G>T , CM000681.1:g.36341790G>T GRCh37
NC_000019.8:g.41033630G>T NCBI36
NG_013356.2:g.23400C>A , LRG_693:g.23400C>A
NG_051206.1:g.4254G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.526+73C>A MANE Select ENSP00000368190.4:n.526+73C>A
ENST00000353632.6:c.526+73C>A ENSP00000343634.5:n.526+73C>A
ENST00000378910.9:c.526+73C>A ENSP00000368190.4:n.526+73C>A
NM_004646.3:c.526+73C>A , LRG_693t1:c.526+73C>A NP_004637.1:n.526+73C>A
NM_004646.4:c.526+73C>A MANE Select NP_004637.1:n.526+73C>A
Search 100 bp 5'
Search 100 bp 3'