Canonical Allele Identifier: CA507314596
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1173672976
gnomAD v2: 19-36340189-C-T
gnomAD v3: 19-35849287-C-T
gnomAD v4: 19-35849287-C-T
MyVariant Identifiers: chr19:g.36340189C>T (hg19) chr19:g.35849287C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849287C>T , CM000681.2:g.35849287C>T GRCh38
NC_000019.9:g.36340189C>T , CM000681.1:g.36340189C>T GRCh37
NC_000019.8:g.41032029C>T NCBI36
NG_013356.2:g.25001G>A , LRG_693:g.25001G>A
NG_051206.1:g.2653C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.789G>A MANE Select ENSP00000368190.4:p.Leu263=
ENST00000353632.6:c.789G>A ENSP00000343634.5:p.Leu263=
ENST00000378910.9:c.789G>A ENSP00000368190.4:p.Leu263=
NM_004646.3:c.789G>A , LRG_693t1:c.789G>A NP_004637.1:p.Leu263=
NM_004646.4:c.789G>A MANE Select NP_004637.1:p.Leu263=
Search 100 bp 5'
Search 100 bp 3'