Canonical Allele Identifier: CA507314602

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 2011767
• ClinVar RCV Id: RCV002851362
• MyVariant Identifiers: chr19:g.36340195C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35849293C>T , CM000681.2:g.35849293C>T	GRCh38
NC_000019.9:g.36340195C>T , CM000681.1:g.36340195C>T	GRCh37
NC_000019.8:g.41032035C>T	NCBI36
NG_013356.2:g.24995G>A , LRG_693:g.24995G>A
NG_051206.1:g.2659C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.783G>A MANE Select	ENSP00000368190.4:p.Leu261=
ENST00000353632.6:c.783G>A	ENSP00000343634.5:p.Leu261=
ENST00000378910.9:c.783G>A	ENSP00000368190.4:p.Leu261=
NM_004646.3:c.783G>A , LRG_693t1:c.783G>A	NP_004637.1:p.Leu261=
NM_004646.4:c.783G>A MANE Select	NP_004637.1:p.Leu261=