Canonical Allele Identifier: CA307827483
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs905092628
gnomAD v2: 19-36317603-T-C
gnomAD v3: 19-35826701-T-C
gnomAD v4: 19-35826701-T-C
MyVariant Identifiers: chr19:g.36317603T>C (hg19) chr19:g.35826701T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826701T>C , CM000681.2:g.35826701T>C GRCh38
NC_000019.9:g.36317603T>C , CM000681.1:g.36317603T>C GRCh37
NC_000019.8:g.41009443T>C NCBI36
NG_013356.2:g.47587A>G , LRG_693:g.47587A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.3595-56A>G MANE Select ENSP00000368190.4:n.3595-56A>G
ENST00000353632.6:c.3475-56A>G ENSP00000343634.5:n.3475-56A>G
ENST00000378910.9:c.3595-56A>G ENSP00000368190.4:n.3595-56A>G
NM_004646.3:c.3595-56A>G , LRG_693t1:c.3595-56A>G NP_004637.1:n.3595-56A>G
NM_004646.4:c.3595-56A>G MANE Select NP_004637.1:n.3595-56A>G
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