Canonical Allele Identifier: CA995487737
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1973234715
gnomAD v3: 19-35850891-C-G
gnomAD v4: 19-35850891-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35850891C>G , CM000681.2:g.35850891C>G GRCh38
NC_000019.9:g.36341793C>G , CM000681.1:g.36341793C>G GRCh37
NC_000019.8:g.41033633C>G NCBI36
NG_013356.2:g.23397G>C , LRG_693:g.23397G>C
NG_051206.1:g.4257C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.526+70G>C MANE Select ENSP00000368190.4:n.526+70G>C
ENST00000353632.6:c.526+70G>C ENSP00000343634.5:n.526+70G>C
ENST00000378910.9:c.526+70G>C ENSP00000368190.4:n.526+70G>C
NM_004646.3:c.526+70G>C , LRG_693t1:c.526+70G>C NP_004637.1:n.526+70G>C
NM_004646.4:c.526+70G>C MANE Select NP_004637.1:n.526+70G>C
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