Canonical Allele Identifier: CA881821616
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1174949053
gnomAD v3: 19-35850889-G-A
gnomAD v4: 19-35850889-G-A
MyVariant Identifiers: chr19:g.36341791G>A (hg19) chr19:g.35850889G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

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