Canonical Allele Identifier: CA507314565

Gene: NPHS1

Linked Data

• MyVariant Identifiers: chr19:g.36340161A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35849259A>G , CM000681.2:g.35849259A>G	GRCh38
NC_000019.9:g.36340161A>G , CM000681.1:g.36340161A>G	GRCh37
NC_000019.8:g.41032001A>G	NCBI36
NG_013356.2:g.25029T>C , LRG_693:g.25029T>C
NG_051206.1:g.2625A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.817T>C MANE Select	ENSP00000368190.4:p.Leu273=
ENST00000353632.6:c.817T>C	ENSP00000343634.5:p.Leu273=
ENST00000378910.9:c.817T>C	ENSP00000368190.4:p.Leu273=
NM_004646.3:c.817T>C , LRG_693t1:c.817T>C	NP_004637.1:p.Leu273=
NM_004646.4:c.817T>C MANE Select	NP_004637.1:p.Leu273=