Canonical Allele Identifier: CA405415216

Gene: NPHS1

Linked Data

• MyVariant Identifiers: chr19:g.36317528C>G (hg19) ; chr19:g.35826626C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35826626C>G , CM000681.2:g.35826626C>G	GRCh38
NC_000019.9:g.36317528C>G , CM000681.1:g.36317528C>G	GRCh37
NC_000019.8:g.41009368C>G	NCBI36
NG_013356.2:g.47662G>C , LRG_693:g.47662G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.3614G>C MANE Select	ENSP00000368190.4:p.Trp1205Ser
ENST00000353632.6:c.3494G>C	ENSP00000343634.5:p.Trp1165Ser
ENST00000378910.9:c.3614G>C	ENSP00000368190.4:p.Trp1205Ser
NM_004646.3:c.3614G>C , LRG_693t1:c.3614G>C	NP_004637.1:p.Trp1205Ser
NM_004646.4:c.3614G>C MANE Select	NP_004637.1:p.Trp1205Ser