Canonical Allele Identifier: CA507091368

Gene: NPHS1

Linked Data

• MyVariant Identifiers: chr19:g.36317542G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35826640G>A , CM000681.2:g.35826640G>A	GRCh38
NC_000019.9:g.36317542G>A , CM000681.1:g.36317542G>A	GRCh37
NC_000019.8:g.41009382G>A	NCBI36
NG_013356.2:g.47648C>T , LRG_693:g.47648C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.3600C>T MANE Select	ENSP00000368190.4:p.Pro1200=
ENST00000353632.6:c.3480C>T	ENSP00000343634.5:p.Pro1160=
ENST00000378910.9:c.3600C>T	ENSP00000368190.4:p.Pro1200=
NM_004646.3:c.3600C>T , LRG_693t1:c.3600C>T	NP_004637.1:p.Pro1200=
NM_004646.4:c.3600C>T MANE Select	NP_004637.1:p.Pro1200=