Canonical Allele Identifier: CA9390924
Gene: NPHS1 HGNC NCBI
KIRREL2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.35851666G>A
GRCh37 chr19:g.36342568G>A
Revel Score:
ENST00000378910 (MANE Select) 0.121
ENST00000353632 0.121
gnomAD v2:
19:36342568 G / A
gnomAD v3:
19:35851666 G / A
gnomAD v4:
chr19-35851666-G-A
Joint Max Group AF 0.0173222 (EAS)
Genomes Max Group AF 0.00854567 (EAS)
Exomes Max Group AF 0.01821612 (EAS)
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'