Canonical Allele Identifier: CA507314350

Gene: NPHS1

Linked Data

• MyVariant Identifiers: chr19:g.36339027G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35848125G>T , CM000681.2:g.35848125G>T	GRCh38
NC_000019.9:g.36339027G>T , CM000681.1:g.36339027G>T	GRCh37
NC_000019.8:g.41030867G>T	NCBI36
NG_013356.2:g.26163C>A , LRG_693:g.26163C>A
NG_051206.1:g.1491G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378910.10:c.1356C>A MANE Select	ENSP00000368190.4:p.Gly452=
ENST00000353632.6:c.1356C>A	ENSP00000343634.5:p.Gly452=
ENST00000378910.9:c.1356C>A	ENSP00000368190.4:p.Gly452=
ENST00000592132.1:n.363C>A
NM_004646.3:c.1356C>A , LRG_693t1:c.1356C>A	NP_004637.1:p.Gly452=
NM_004646.4:c.1356C>A MANE Select	NP_004637.1:p.Gly452=