Canonical Allele Identifier: CA307781808
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1040286981
gnomAD v2: 19-36332535-T-G
gnomAD v3: 19-35841633-T-G
gnomAD v4: 19-35841633-T-G
MyVariant Identifiers: chr19:g.36332535T>G (hg19) chr19:g.35841633T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35841633T>G , CM000681.2:g.35841633T>G GRCh38
NC_000019.9:g.36332535T>G , CM000681.1:g.36332535T>G GRCh37
NC_000019.8:g.41024375T>G NCBI36
NG_013356.2:g.32655A>C , LRG_693:g.32655A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.2815+82A>C MANE Select ENSP00000368190.4:n.2815+82A>C
ENST00000353632.6:c.2815+82A>C ENSP00000343634.5:n.2815+82A>C
ENST00000378910.9:c.2815+82A>C ENSP00000368190.4:n.2815+82A>C
NM_004646.3:c.2815+82A>C , LRG_693t1:c.2815+82A>C NP_004637.1:n.2815+82A>C
NM_004646.4:c.2815+82A>C MANE Select NP_004637.1:n.2815+82A>C
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