Canonical Allele Identifier: CA405412543

Gene: NPHS1 KIRREL2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35851779C>T , CM000681.2:g.35851779C>T	GRCh38
NC_000019.9:g.36342681C>T , CM000681.1:g.36342681C>T	GRCh37
NC_000019.8:g.41034521C>T	NCBI36
NG_013356.2:g.22509G>A , LRG_693:g.22509G>A
NG_051206.1:g.5145C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004646.4:c.58+1G>A (NPHS1) MANE Select	NP_004637.1:n.58+1G>A
ENST00000378910.10:c.58+1G>A (NPHS1) MANE Select	ENSP00000368190.4:n.58+1G>A
NM_004646.3:c.58+1G>A , LRG_693t1:c.58+1G>A (NPHS1)	NP_004637.1:n.58+1G>A
ENST00000353632.6:c.58+1G>A (NPHS1)	ENSP00000343634.5:n.58+1G>A
ENST00000378910.9:c.58+1G>A (NPHS1)	ENSP00000368190.4:n.58+1G>A
ENST00000591817.1:n.560-107G>A (NPHS1)
XM_011527362.1:c.-184+56C>T (KIRREL2)	XP_011525664.1:n.-184+56C>T
XM_011527363.1:c.-175+56C>T (KIRREL2)	XP_011525665.1:n.-175+56C>T
XM_011527364.1:c.-184+56C>T (KIRREL2)	XP_011525666.1:n.-184+56C>T
XM_011527365.1:c.-184+56C>T (KIRREL2)	XP_011525667.1:n.-184+56C>T