Canonical Allele Identifier: CA307787970
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs997603636
gnomAD v2: 19-36340138-C-G
gnomAD v3: 19-35849236-C-G
gnomAD v4: 19-35849236-C-G
MyVariant Identifiers: chr19:g.36340138C>G (hg19) chr19:g.35849236C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849236C>G , CM000681.2:g.35849236C>G GRCh38
NC_000019.9:g.36340138C>G , CM000681.1:g.36340138C>G GRCh37
NC_000019.8:g.41031978C>G NCBI36
NG_013356.2:g.25052G>C , LRG_693:g.25052G>C
NG_051206.1:g.2602C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.840G>C MANE Select ENSP00000368190.4:p.Lys280Asn
ENST00000353632.6:c.840G>C ENSP00000343634.5:p.Lys280Asn
ENST00000378910.9:c.840G>C ENSP00000368190.4:p.Lys280Asn
NM_004646.3:c.840G>C , LRG_693t1:c.840G>C NP_004637.1:p.Lys280Asn
NM_004646.4:c.840G>C MANE Select NP_004637.1:p.Lys280Asn
Search 100 bp 5'
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