Canonical Allele Identifier: CA307791385

Gene: NPHS1 KIRREL2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35851836A>G , CM000681.2:g.35851836A>G	GRCh38
NC_000019.9:g.36342738A>G , CM000681.1:g.36342738A>G	GRCh37
NC_000019.8:g.41034578A>G	NCBI36
NG_013356.2:g.22452T>C , LRG_693:g.22452T>C
NG_051206.1:g.5202A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004646.4:c.2T>C (NPHS1) MANE Select	NP_004637.1:p.Met1Thr
ENST00000378910.10:c.2T>C (NPHS1) MANE Select	ENSP00000368190.4:p.Met1Thr
NM_004646.3:c.2T>C , LRG_693t1:c.2T>C (NPHS1)	NP_004637.1:p.Met1Thr
ENST00000353632.6:c.2T>C (NPHS1)	ENSP00000343634.5:p.Met1Thr
ENST00000378910.9:c.2T>C (NPHS1)	ENSP00000368190.4:p.Met1Thr
ENST00000591817.1:n.560-164T>C (NPHS1)
XM_011527362.1:c.-184+113A>G (KIRREL2)	XP_011525664.1:n.-184+113A>G
XM_011527363.1:c.-175+113A>G (KIRREL2)	XP_011525665.1:n.-175+113A>G
XM_011527364.1:c.-184+113A>G (KIRREL2)	XP_011525666.1:n.-184+113A>G
XM_011527365.1:c.-184+113A>G (KIRREL2)	XP_011525667.1:n.-184+113A>G