Canonical Allele Identifier: CA9390519
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs369971651
ExAC: 19:36339337 A / C
gnomAD v2: 19-36339337-A-C
gnomAD v3: 19-35848435-A-C
gnomAD v4: 19-35848435-A-C
MyVariant Identifiers: chr19:g.36339337A>C (hg19) chr19:g.35848435A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848435A>C , CM000681.2:g.35848435A>C GRCh38
NC_000019.9:g.36339337A>C , CM000681.1:g.36339337A>C GRCh37
NC_000019.8:g.41031177A>C NCBI36
NG_013356.2:g.25853T>G , LRG_693:g.25853T>G
NG_051206.1:g.1801A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1171-38T>G MANE Select ENSP00000368190.4:n.1171-38T>G
ENST00000353632.6:c.1171-38T>G ENSP00000343634.5:n.1171-38T>G
ENST00000378910.9:c.1171-38T>G ENSP00000368190.4:n.1171-38T>G
ENST00000592132.1:n.178-38T>G
NM_004646.3:c.1171-38T>G , LRG_693t1:c.1171-38T>G NP_004637.1:n.1171-38T>G
NM_004646.4:c.1171-38T>G MANE Select NP_004637.1:n.1171-38T>G
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