Canonical Allele Identifier: CA507314589

Gene: NPHS1

Linked Data

• MyVariant Identifiers: chr19:g.36340180C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35849278C>A , CM000681.2:g.35849278C>A	GRCh38
NC_000019.9:g.36340180C>A , CM000681.1:g.36340180C>A	GRCh37
NC_000019.8:g.41032020C>A	NCBI36
NG_013356.2:g.25010G>T , LRG_693:g.25010G>T
NG_051206.1:g.2644C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.798G>T MANE Select	ENSP00000368190.4:p.Val266=
ENST00000353632.6:c.798G>T	ENSP00000343634.5:p.Val266=
ENST00000378910.9:c.798G>T	ENSP00000368190.4:p.Val266=
NM_004646.3:c.798G>T , LRG_693t1:c.798G>T	NP_004637.1:p.Val266=
NM_004646.4:c.798G>T MANE Select	NP_004637.1:p.Val266=