Canonical Allele Identifier: CA405403916

Gene: NPHS1

Linked Data

• MyVariant Identifiers: chr19:g.36338989C>A (hg19) ; chr19:g.35848087C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35848087C>A , CM000681.2:g.35848087C>A	GRCh38
NC_000019.9:g.36338989C>A , CM000681.1:g.36338989C>A	GRCh37
NC_000019.8:g.41030829C>A	NCBI36
NG_013356.2:g.26201G>T , LRG_693:g.26201G>T
NG_051206.1:g.1453C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1394G>T MANE Select	ENSP00000368190.4:p.Cys465Phe
ENST00000353632.6:c.1394G>T	ENSP00000343634.5:p.Cys465Phe
ENST00000378910.9:c.1394G>T	ENSP00000368190.4:p.Cys465Phe
ENST00000592132.1:n.401G>T
NM_004646.3:c.1394G>T , LRG_693t1:c.1394G>T	NP_004637.1:p.Cys465Phe
NM_004646.4:c.1394G>T MANE Select	NP_004637.1:p.Cys465Phe