Canonical Allele Identifier: CA10652382

Gene: NPHS1 KIRREL2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35851894C>A , CM000681.2:g.35851894C>A	GRCh38
NC_000019.9:g.36342796C>A , CM000681.1:g.36342796C>A	GRCh37
NC_000019.8:g.41034636C>A	NCBI36
NG_013356.2:g.22394G>T , LRG_693:g.22394G>T
NG_051206.1:g.5260C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004646.4:c.-57G>T (NPHS1) MANE Select	NP_004637.1:n.-57G>T
ENST00000378910.10:c.-57G>T (NPHS1) MANE Select	ENSP00000368190.4:n.-57G>T
NM_004646.3:c.-57G>T , LRG_693t1:c.-57G>T (NPHS1)	NP_004637.1:n.-57G>T
ENST00000591817.1:n.560-222G>T (NPHS1)
XM_011527362.1:c.-184+171C>A (KIRREL2)	XP_011525664.1:n.-184+171C>A
XM_011527363.1:c.-175+171C>A (KIRREL2)	XP_011525665.1:n.-175+171C>A
XM_011527364.1:c.-184+171C>A (KIRREL2)	XP_011525666.1:n.-184+171C>A
XM_011527365.1:c.-184+171C>A (KIRREL2)	XP_011525667.1:n.-184+171C>A