Canonical Allele Identifier: CA9390882
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs376923714
ExAC: 19:36342416 G / A
gnomAD v2: 19-36342416-G-A
gnomAD v3: 19-35851514-G-A
gnomAD v4: 19-35851514-G-A
MyVariant Identifiers: chr19:g.36342416G>A (hg19) chr19:g.35851514G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35851514G>A , CM000681.2:g.35851514G>A GRCh38
NC_000019.9:g.36342416G>A , CM000681.1:g.36342416G>A GRCh37
NC_000019.8:g.41034256G>A NCBI36
NG_013356.2:g.22774C>T , LRG_693:g.22774C>T
NG_051206.1:g.4880G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.217C>T MANE Select ENSP00000368190.4:p.Pro73Ser
ENST00000353632.6:c.217C>T ENSP00000343634.5:p.Pro73Ser
ENST00000378910.9:c.217C>T ENSP00000368190.4:p.Pro73Ser
NM_004646.3:c.217C>T , LRG_693t1:c.217C>T NP_004637.1:p.Pro73Ser
NM_004646.4:c.217C>T MANE Select NP_004637.1:p.Pro73Ser
Search 100 bp 5'
Search 100 bp 3'