Canonical Allele Identifier: CA9390947

Gene: NPHS1 KIRREL2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35851824G>A , CM000681.2:g.35851824G>A	GRCh38
NC_000019.9:g.36342726G>A , CM000681.1:g.36342726G>A	GRCh37
NC_000019.8:g.41034566G>A	NCBI36
NG_013356.2:g.22464C>T , LRG_693:g.22464C>T
NG_051206.1:g.5190G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004646.4:c.14C>T (NPHS1) MANE Select	NP_004637.1:p.Thr5Met
ENST00000378910.10:c.14C>T (NPHS1) MANE Select	ENSP00000368190.4:p.Thr5Met
NM_004646.3:c.14C>T , LRG_693t1:c.14C>T (NPHS1)	NP_004637.1:p.Thr5Met
ENST00000353632.6:c.14C>T (NPHS1)	ENSP00000343634.5:p.Thr5Met
ENST00000378910.9:c.14C>T (NPHS1)	ENSP00000368190.4:p.Thr5Met
ENST00000591817.1:n.560-152C>T (NPHS1)
XM_011527362.1:c.-184+101G>A (KIRREL2)	XP_011525664.1:n.-184+101G>A
XM_011527363.1:c.-175+101G>A (KIRREL2)	XP_011525665.1:n.-175+101G>A
XM_011527364.1:c.-184+101G>A (KIRREL2)	XP_011525666.1:n.-184+101G>A
XM_011527365.1:c.-184+101G>A (KIRREL2)	XP_011525667.1:n.-184+101G>A