Canonical Allele Identifier: CA405403697

Gene: NPHS1

Linked Data

• dbSNP Id: rs1973169556
• gnomAD v4: 19-35848067-G-T
• MyVariant Identifiers: chr19:g.36338969G>T (hg19) ; chr19:g.35848067G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35848067G>T , CM000681.2:g.35848067G>T	GRCh38
NC_000019.9:g.36338969G>T , CM000681.1:g.36338969G>T	GRCh37
NC_000019.8:g.41030809G>T	NCBI36
NG_013356.2:g.26221C>A , LRG_693:g.26221C>A
NG_051206.1:g.1433G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1414C>A MANE Select	ENSP00000368190.4:p.Pro472Thr
ENST00000353632.6:c.1414C>A	ENSP00000343634.5:p.Pro472Thr
ENST00000378910.9:c.1414C>A	ENSP00000368190.4:p.Pro472Thr
ENST00000592132.1:n.421C>A
NM_004646.3:c.1414C>A , LRG_693t1:c.1414C>A	NP_004637.1:p.Pro472Thr
NM_004646.4:c.1414C>A MANE Select	NP_004637.1:p.Pro472Thr