Canonical Allele Identifier: CA507314587
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1674769
ClinVar RCV Id: RCV002208504
dbSNP Id: rs2146827887
gnomAD v4: 19-35849275-G-T
COSMIC: COSM6084492
MyVariant Identifiers: chr19:g.36340177G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849275G>T , CM000681.2:g.35849275G>T GRCh38
NC_000019.9:g.36340177G>T , CM000681.1:g.36340177G>T GRCh37
NC_000019.8:g.41032017G>T NCBI36
NG_013356.2:g.25013C>A , LRG_693:g.25013C>A
NG_051206.1:g.2641G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.801C>A MANE Select ENSP00000368190.4:p.Ala267=
ENST00000353632.6:c.801C>A ENSP00000343634.5:p.Ala267=
ENST00000378910.9:c.801C>A ENSP00000368190.4:p.Ala267=
NM_004646.3:c.801C>A , LRG_693t1:c.801C>A NP_004637.1:p.Ala267=
NM_004646.4:c.801C>A MANE Select NP_004637.1:p.Ala267=
Search 100 bp 5'
Search 100 bp 3'