Canonical Allele Identifier: CA9389694

Gene: NPHS1

Linked Data

• dbSNP Id: rs759119460
• ExAC: 19:36317575 C / A
• gnomAD v2: 19-36317575-C-A
• gnomAD v4: 19-35826673-C-A
• MyVariant Identifiers: chr19:g.36317575C>A (hg19) ; chr19:g.35826673C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35826673C>A , CM000681.2:g.35826673C>A	GRCh38
NC_000019.9:g.36317575C>A , CM000681.1:g.36317575C>A	GRCh37
NC_000019.8:g.41009415C>A	NCBI36
NG_013356.2:g.47615G>T , LRG_693:g.47615G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.3595-28G>T MANE Select	ENSP00000368190.4:n.3595-28G>T
ENST00000353632.6:c.3475-28G>T	ENSP00000343634.5:n.3475-28G>T
ENST00000378910.9:c.3595-28G>T	ENSP00000368190.4:n.3595-28G>T
NM_004646.3:c.3595-28G>T , LRG_693t1:c.3595-28G>T	NP_004637.1:n.3595-28G>T
NM_004646.4:c.3595-28G>T MANE Select	NP_004637.1:n.3595-28G>T