Canonical Allele Identifier: CA2739276690

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 2780734
• ClinVar RCV Id: RCV003659575

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35849217T>C , CM000681.2:g.35849217T>C	GRCh38
NC_000019.9:g.36340119T>C , CM000681.1:g.36340119T>C	GRCh37
NC_000019.8:g.41031959T>C	NCBI36
NG_013356.2:g.25071A>G , LRG_693:g.25071A>G
NG_051206.1:g.2583T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.840+19A>G MANE Select	ENSP00000368190.4:n.840+19A>G
ENST00000353632.6:c.840+19A>G	ENSP00000343634.5:n.840+19A>G
ENST00000378910.9:c.840+19A>G	ENSP00000368190.4:n.840+19A>G
NM_004646.3:c.840+19A>G , LRG_693t1:c.840+19A>G	NP_004637.1:n.840+19A>G
NM_004646.4:c.840+19A>G MANE Select	NP_004637.1:n.840+19A>G