Canonical Allele Identifier: CA405405554
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1271387570
gnomAD v2: 19-36339239-T-C
gnomAD v4: 19-35848337-T-C
MyVariant Identifiers: chr19:g.36339239T>C (hg19) chr19:g.35848337T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848337T>C , CM000681.2:g.35848337T>C GRCh38
NC_000019.9:g.36339239T>C , CM000681.1:g.36339239T>C GRCh37
NC_000019.8:g.41031079T>C NCBI36
NG_013356.2:g.25951A>G , LRG_693:g.25951A>G
NG_051206.1:g.1703T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1231A>G MANE Select ENSP00000368190.4:p.Asn411Asp
ENST00000353632.6:c.1231A>G ENSP00000343634.5:p.Asn411Asp
ENST00000378910.9:c.1231A>G ENSP00000368190.4:p.Asn411Asp
ENST00000592132.1:n.238A>G
NM_004646.3:c.1231A>G , LRG_693t1:c.1231A>G NP_004637.1:p.Asn411Asp
NM_004646.4:c.1231A>G MANE Select NP_004637.1:p.Asn411Asp
Search 100 bp 5'
Search 100 bp 3'