Canonical Allele Identifier: CA9389695

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 1265144
• ClinVar RCV Id: RCV001677917
• dbSNP Id: rs73928317
• ExAC: 19:36317583 G / C
• gnomAD v2: 19-36317583-G-C
• gnomAD v3: 19-35826681-G-C
• gnomAD v4: 19-35826681-G-C
• MyVariant Identifiers: chr19:g.36317583G>C (hg19) ; chr19:g.35826681G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35826681G>C , CM000681.2:g.35826681G>C	GRCh38
NC_000019.9:g.36317583G>C , CM000681.1:g.36317583G>C	GRCh37
NC_000019.8:g.41009423G>C	NCBI36
NG_013356.2:g.47607C>G , LRG_693:g.47607C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.3595-36C>G MANE Select	ENSP00000368190.4:n.3595-36C>G
ENST00000353632.6:c.3475-36C>G	ENSP00000343634.5:n.3475-36C>G
ENST00000378910.9:c.3595-36C>G	ENSP00000368190.4:n.3595-36C>G
NM_004646.3:c.3595-36C>G , LRG_693t1:c.3595-36C>G	NP_004637.1:n.3595-36C>G
NM_004646.4:c.3595-36C>G MANE Select	NP_004637.1:n.3595-36C>G