Canonical Allele Identifier: CA507085419

Gene: NPHS1

Linked Data

• MyVariant Identifiers: chr19:g.36340507C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35849605C>A , CM000681.2:g.35849605C>A	GRCh38
NC_000019.9:g.36340507C>A , CM000681.1:g.36340507C>A	GRCh37
NC_000019.8:g.41032347C>A	NCBI36
NG_013356.2:g.24683G>T , LRG_693:g.24683G>T
NG_051206.1:g.2971C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.657G>T MANE Select	ENSP00000368190.4:p.Ala219=
ENST00000353632.6:c.657G>T	ENSP00000343634.5:p.Ala219=
ENST00000378910.9:c.657G>T	ENSP00000368190.4:p.Ala219=
NM_004646.3:c.657G>T , LRG_693t1:c.657G>T	NP_004637.1:p.Ala219=
NM_004646.4:c.657G>T MANE Select	NP_004637.1:p.Ala219=