Canonical Allele Identifier: CA405412535

Gene: NPHS1 KIRREL2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35851778A>G , CM000681.2:g.35851778A>G	GRCh38
NC_000019.9:g.36342680A>G , CM000681.1:g.36342680A>G	GRCh37
NC_000019.8:g.41034520A>G	NCBI36
NG_013356.2:g.22510T>C , LRG_693:g.22510T>C
NG_051206.1:g.5144A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004646.4:c.58+2T>C (NPHS1) MANE Select	NP_004637.1:n.58+2T>C
ENST00000378910.10:c.58+2T>C (NPHS1) MANE Select	ENSP00000368190.4:n.58+2T>C
NM_004646.3:c.58+2T>C , LRG_693t1:c.58+2T>C (NPHS1)	NP_004637.1:n.58+2T>C
ENST00000353632.6:c.58+2T>C (NPHS1)	ENSP00000343634.5:n.58+2T>C
ENST00000378910.9:c.58+2T>C (NPHS1)	ENSP00000368190.4:n.58+2T>C
ENST00000591817.1:n.560-106T>C (NPHS1)
XM_011527362.1:c.-184+55A>G (KIRREL2)	XP_011525664.1:n.-184+55A>G
XM_011527363.1:c.-175+55A>G (KIRREL2)	XP_011525665.1:n.-175+55A>G
XM_011527364.1:c.-184+55A>G (KIRREL2)	XP_011525666.1:n.-184+55A>G
XM_011527365.1:c.-184+55A>G (KIRREL2)	XP_011525667.1:n.-184+55A>G