Canonical Allele Identifier: CA405389486

Gene: NPHS1

Linked Data

• MyVariant Identifiers: chr19:g.36332661T>A (hg19) ; chr19:g.35841759T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35841759T>A , CM000681.2:g.35841759T>A	GRCh38
NC_000019.9:g.36332661T>A , CM000681.1:g.36332661T>A	GRCh37
NC_000019.8:g.41024501T>A	NCBI36
NG_013356.2:g.32529A>T , LRG_693:g.32529A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.2771A>T MANE Select	ENSP00000368190.4:p.Asn924Ile
ENST00000353632.6:c.2771A>T	ENSP00000343634.5:p.Asn924Ile
ENST00000378910.9:c.2771A>T	ENSP00000368190.4:p.Asn924Ile
NM_004646.3:c.2771A>T , LRG_693t1:c.2771A>T	NP_004637.1:p.Asn924Ile
NM_004646.4:c.2771A>T MANE Select	NP_004637.1:p.Asn924Ile