Canonical Allele Identifier: CA633061260
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1318792607
gnomAD v2: 19-36333224-A-T
gnomAD v4: 19-35842322-A-T
MyVariant Identifiers: chr19:g.36333224A>T (hg19) chr19:g.35842322A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35842322A>T , CM000681.2:g.35842322A>T GRCh38
NC_000019.9:g.36333224A>T , CM000681.1:g.36333224A>T GRCh37
NC_000019.8:g.41025064A>T NCBI36
NG_013356.2:g.31966T>A , LRG_693:g.31966T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2507-42T>A MANE Select ENSP00000368190.4:n.2507-42T>A
ENST00000353632.6:c.2507-42T>A ENSP00000343634.5:n.2507-42T>A
ENST00000378910.9:c.2507-42T>A ENSP00000368190.4:n.2507-42T>A
NM_004646.3:c.2507-42T>A , LRG_693t1:c.2507-42T>A NP_004637.1:n.2507-42T>A
NM_004646.4:c.2507-42T>A MANE Select NP_004637.1:n.2507-42T>A
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