Canonical Allele Identifier: CA2333851568
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1174949053
gnomAD v4: 19-35850889-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35850889G>T , CM000681.2:g.35850889G>T GRCh38
NC_000019.9:g.36341791G>T , CM000681.1:g.36341791G>T GRCh37
NC_000019.8:g.41033631G>T NCBI36
NG_013356.2:g.23399C>A , LRG_693:g.23399C>A
NG_051206.1:g.4255G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.526+72C>A MANE Select ENSP00000368190.4:n.526+72C>A
ENST00000353632.6:c.526+72C>A ENSP00000343634.5:n.526+72C>A
ENST00000378910.9:c.526+72C>A ENSP00000368190.4:n.526+72C>A
NM_004646.3:c.526+72C>A , LRG_693t1:c.526+72C>A NP_004637.1:n.526+72C>A
NM_004646.4:c.526+72C>A MANE Select NP_004637.1:n.526+72C>A
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