Canonical Allele Identifier: CA9390651
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 724178
ClinVar RCV Id: RCV000898050 RCV001125719 RCV001272296 RCV001796311 RCV002294410
dbSNP Id: rs115308424
ExAC: 19:36340175 C / T
gnomAD v2: 19-36340175-C-T
gnomAD v3: 19-35849273-C-T
gnomAD v4: 19-35849273-C-T
MyVariant Identifiers: chr19:g.36340175C>T (hg19) chr19:g.35849273C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849273C>T , CM000681.2:g.35849273C>T GRCh38
NC_000019.9:g.36340175C>T , CM000681.1:g.36340175C>T GRCh37
NC_000019.8:g.41032015C>T NCBI36
NG_013356.2:g.25015G>A , LRG_693:g.25015G>A
NG_051206.1:g.2639C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.803G>A MANE Select ENSP00000368190.4:p.Arg268Gln
ENST00000353632.6:c.803G>A ENSP00000343634.5:p.Arg268Gln
ENST00000378910.9:c.803G>A ENSP00000368190.4:p.Arg268Gln
NM_004646.3:c.803G>A , LRG_693t1:c.803G>A NP_004637.1:p.Arg268Gln
NM_004646.4:c.803G>A MANE Select NP_004637.1:p.Arg268Gln
Search 100 bp 5'
Search 100 bp 3'