Canonical Allele Identifier: CA9390660
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs758994022
ExAC: 19:36340202 T / C
gnomAD v2: 19-36340202-T-C
gnomAD v3: 19-35849300-T-C
gnomAD v4: 19-35849300-T-C
COSMIC: COSM474601
MyVariant Identifiers: chr19:g.36340202T>C (hg19) chr19:g.35849300T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849300T>C , CM000681.2:g.35849300T>C GRCh38
NC_000019.9:g.36340202T>C , CM000681.1:g.36340202T>C GRCh37
NC_000019.8:g.41032042T>C NCBI36
NG_013356.2:g.24988A>G , LRG_693:g.24988A>G
NG_051206.1:g.2666T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.776A>G MANE Select ENSP00000368190.4:p.Gln259Arg
ENST00000353632.6:c.776A>G ENSP00000343634.5:p.Gln259Arg
ENST00000378910.9:c.776A>G ENSP00000368190.4:p.Gln259Arg
NM_004646.3:c.776A>G , LRG_693t1:c.776A>G NP_004637.1:p.Gln259Arg
NM_004646.4:c.776A>G MANE Select NP_004637.1:p.Gln259Arg
Search 100 bp 5'
Search 100 bp 3'