Canonical Allele Identifier: CA307781861

Gene: NPHS1

Linked Data

• dbSNP Id: rs1013089121
• gnomAD v2: 19-36332613-A-G
• gnomAD v3: 19-35841711-A-G
• gnomAD v4: 19-35841711-A-G
• MyVariant Identifiers: chr19:g.36332613A>G (hg19) ; chr19:g.35841711A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35841711A>G , CM000681.2:g.35841711A>G	GRCh38
NC_000019.9:g.36332613A>G , CM000681.1:g.36332613A>G	GRCh37
NC_000019.8:g.41024453A>G	NCBI36
NG_013356.2:g.32577T>C , LRG_693:g.32577T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.2815+4T>C MANE Select	ENSP00000368190.4:n.2815+4T>C
ENST00000353632.6:c.2815+4T>C	ENSP00000343634.5:n.2815+4T>C
ENST00000378910.9:c.2815+4T>C	ENSP00000368190.4:n.2815+4T>C
NM_004646.3:c.2815+4T>C , LRG_693t1:c.2815+4T>C	NP_004637.1:n.2815+4T>C
NM_004646.4:c.2815+4T>C MANE Select	NP_004637.1:n.2815+4T>C