Canonical Allele Identifier: CA405405571
Gene: NPHS1 HGNC NCBI

Linked Data

gnomAD v4: 19-35848339-T-A
COSMIC: COSM4383167
MyVariant Identifiers: chr19:g.36339241T>A (hg19) chr19:g.35848339T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848339T>A , CM000681.2:g.35848339T>A GRCh38
NC_000019.9:g.36339241T>A , CM000681.1:g.36339241T>A GRCh37
NC_000019.8:g.41031081T>A NCBI36
NG_013356.2:g.25949A>T , LRG_693:g.25949A>T
NG_051206.1:g.1705T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1229A>T MANE Select ENSP00000368190.4:p.Asp410Val
ENST00000353632.6:c.1229A>T ENSP00000343634.5:p.Asp410Val
ENST00000378910.9:c.1229A>T ENSP00000368190.4:p.Asp410Val
ENST00000592132.1:n.236A>T
NM_004646.3:c.1229A>T , LRG_693t1:c.1229A>T NP_004637.1:p.Asp410Val
NM_004646.4:c.1229A>T MANE Select NP_004637.1:p.Asp410Val
Search 100 bp 5'
Search 100 bp 3'