Canonical Allele Identifier: CA405391697

Gene: NPHS1

Linked Data

• MyVariant Identifiers: chr19:g.36333102A>T (hg19) ; chr19:g.35842200A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35842200A>T , CM000681.2:g.35842200A>T	GRCh38
NC_000019.9:g.36333102A>T , CM000681.1:g.36333102A>T	GRCh37
NC_000019.8:g.41024942A>T	NCBI36
NG_013356.2:g.32088T>A , LRG_693:g.32088T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.2587T>A MANE Select	ENSP00000368190.4:p.Cys863Ser
ENST00000353632.6:c.2587T>A	ENSP00000343634.5:p.Cys863Ser
ENST00000378910.9:c.2587T>A	ENSP00000368190.4:p.Cys863Ser
NM_004646.3:c.2587T>A , LRG_693t1:c.2587T>A	NP_004637.1:p.Cys863Ser
NM_004646.4:c.2587T>A MANE Select	NP_004637.1:p.Cys863Ser