Canonical Allele Identifier: CA9390924

Gene: NPHS1 KIRREL2

Linked Data

• ClinVar Variation Id: 225424
• ClinVar RCV Id: RCV000490334 ; RCV000903298 ; RCV002271466
• dbSNP Id: rs116617171
• ExAC: 19:36342568 G / A
• gnomAD v2: 19-36342568-G-A
• gnomAD v3: 19-35851666-G-A
• gnomAD v4: 19-35851666-G-A
• COSMIC: COSM3692677
• MyVariant Identifiers: chr19:g.36342568G>A (hg19) ; chr19:g.35851666G>A (hg38)
• PubMed: PMID:15338398

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35851666G>A , CM000681.2:g.35851666G>A	GRCh38
NC_000019.9:g.36342568G>A , CM000681.1:g.36342568G>A	GRCh37
NC_000019.8:g.41034408G>A	NCBI36
NG_013356.2:g.22622C>T , LRG_693:g.22622C>T
NG_051206.1:g.5032G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.65C>T (NPHS1) MANE Select	ENSP00000368190.4:p.Ala22Val
ENST00000353632.6:c.65C>T (NPHS1)	ENSP00000343634.5:p.Ala22Val
ENST00000378910.9:c.65C>T (NPHS1)	ENSP00000368190.4:p.Ala22Val
ENST00000591817.1:n.566C>T (NPHS1)
NM_004646.3:c.65C>T , LRG_693t1:c.65C>T (NPHS1)	NP_004637.1:p.Ala22Val
XM_011527362.1:c.-241G>A (KIRREL2)	XP_011525664.1:n.-241G>A
XM_011527363.1:c.-232G>A (KIRREL2)	XP_011525665.1:n.-232G>A
XM_011527364.1:c.-241G>A (KIRREL2)	XP_011525666.1:n.-241G>A
XM_011527365.1:c.-241G>A (KIRREL2)	XP_011525667.1:n.-241G>A
NM_004646.4:c.65C>T (NPHS1) MANE Select	NP_004637.1:p.Ala22Val