Canonical Allele Identifier: CA9390672
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2143522
ClinVar RCV Id: RCV003062732
dbSNP Id: rs386833959
ExAC: 19:36340242 C / T
gnomAD v2: 19-36340242-C-T
gnomAD v3: 19-35849340-C-T
gnomAD v4: 19-35849340-C-T
MyVariant Identifiers: chr19:g.36340242C>T (hg19) chr19:g.35849340C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849340C>T , CM000681.2:g.35849340C>T GRCh38
NC_000019.9:g.36340242C>T , CM000681.1:g.36340242C>T GRCh37
NC_000019.8:g.41032082C>T NCBI36
NG_013356.2:g.24948G>A , LRG_693:g.24948G>A
NG_051206.1:g.2706C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.736G>A MANE Select ENSP00000368190.4:p.Glu246Lys
ENST00000353632.6:c.736G>A ENSP00000343634.5:p.Glu246Lys
ENST00000378910.9:c.736G>A ENSP00000368190.4:p.Glu246Lys
NM_004646.3:c.736G>A , LRG_693t1:c.736G>A NP_004637.1:p.Glu246Lys
NM_004646.4:c.736G>A MANE Select NP_004637.1:p.Glu246Lys
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