Canonical Allele Identifier: CA405385798
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1419436308
gnomAD v3: 19-35839509-T-A
gnomAD v4: 19-35839509-T-A
MyVariant Identifiers: chr19:g.36330411T>A (hg19) chr19:g.35839509T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35839509T>A , CM000681.2:g.35839509T>A GRCh38
NC_000019.9:g.36330411T>A , CM000681.1:g.36330411T>A GRCh37
NC_000019.8:g.41022251T>A NCBI36
NG_013356.2:g.34779A>T , LRG_693:g.34779A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.2914A>T MANE Select ENSP00000368190.4:p.Arg972Trp
ENST00000353632.6:c.2914A>T ENSP00000343634.5:p.Arg972Trp
ENST00000378910.9:c.2914A>T ENSP00000368190.4:p.Arg972Trp
NM_004646.3:c.2914A>T , LRG_693t1:c.2914A>T NP_004637.1:p.Arg972Trp
NM_004646.4:c.2914A>T MANE Select NP_004637.1:p.Arg972Trp
Search 100 bp 5'
Search 100 bp 3'