Canonical Allele Identifier: CA405412624

Gene: NPHS1 KIRREL2

Linked Data

• MyVariant Identifiers: chr19:g.36342697C>T (hg19) ; chr19:g.35851795C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35851795C>T , CM000681.2:g.35851795C>T	GRCh38
NC_000019.9:g.36342697C>T , CM000681.1:g.36342697C>T	GRCh37
NC_000019.8:g.41034537C>T	NCBI36
NG_013356.2:g.22493G>A , LRG_693:g.22493G>A
NG_051206.1:g.5161C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.43G>A (NPHS1) MANE Select	ENSP00000368190.4:p.Gly15Arg
ENST00000353632.6:c.43G>A (NPHS1)	ENSP00000343634.5:p.Gly15Arg
ENST00000378910.9:c.43G>A (NPHS1)	ENSP00000368190.4:p.Gly15Arg
ENST00000591817.1:n.560-123G>A (NPHS1)
NM_004646.3:c.43G>A , LRG_693t1:c.43G>A (NPHS1)	NP_004637.1:p.Gly15Arg
XM_011527362.1:c.-184+72C>T (KIRREL2)	XP_011525664.1:n.-184+72C>T
XM_011527363.1:c.-175+72C>T (KIRREL2)	XP_011525665.1:n.-175+72C>T
XM_011527364.1:c.-184+72C>T (KIRREL2)	XP_011525666.1:n.-184+72C>T
XM_011527365.1:c.-184+72C>T (KIRREL2)	XP_011525667.1:n.-184+72C>T
NM_004646.4:c.43G>A (NPHS1) MANE Select	NP_004637.1:p.Gly15Arg