Canonical Allele Identifier: CA405406984

Gene: NPHS1

Linked Data

• dbSNP Id: rs1599845588
• MyVariant Identifiers: chr19:g.36340136A>C (hg19) ; chr19:g.35849234A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35849234A>C , CM000681.2:g.35849234A>C	GRCh38
NC_000019.9:g.36340136A>C , CM000681.1:g.36340136A>C	GRCh37
NC_000019.8:g.41031976A>C	NCBI36
NG_013356.2:g.25054T>G , LRG_693:g.25054T>G
NG_051206.1:g.2600A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.840+2T>G MANE Select	ENSP00000368190.4:n.840+2T>G
ENST00000353632.6:c.840+2T>G	ENSP00000343634.5:n.840+2T>G
ENST00000378910.9:c.840+2T>G	ENSP00000368190.4:n.840+2T>G
NM_004646.3:c.840+2T>G , LRG_693t1:c.840+2T>G	NP_004637.1:n.840+2T>G
NM_004646.4:c.840+2T>G MANE Select	NP_004637.1:n.840+2T>G