Canonical Allele Identifier: CA9390753

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 259505
• ClinVar RCV Id: RCV000245977 ; RCV000334981 ; RCV000898175 ; RCV001278569
• dbSNP Id: rs61731102
• ExAC: 19:36341277 C / T
• gnomAD v2: 19-36341277-C-T
• gnomAD v3: 19-35850375-C-T
• gnomAD v4: 19-35850375-C-T
• MyVariant Identifiers: chr19:g.36341277C>T (hg19) ; chr19:g.35850375C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35850375C>T , CM000681.2:g.35850375C>T	GRCh38
NC_000019.9:g.36341277C>T , CM000681.1:g.36341277C>T	GRCh37
NC_000019.8:g.41033117C>T	NCBI36
NG_013356.2:g.23913G>A , LRG_693:g.23913G>A
NG_051206.1:g.3741C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.597G>A MANE Select	ENSP00000368190.4:p.Glu199=
ENST00000353632.6:c.597G>A	ENSP00000343634.5:p.Glu199=
ENST00000378910.9:c.597G>A	ENSP00000368190.4:p.Glu199=
NM_004646.3:c.597G>A , LRG_693t1:c.597G>A	NP_004637.1:p.Glu199=
NM_004646.4:c.597G>A MANE Select	NP_004637.1:p.Glu199=