Canonical Allele Identifier: CA9390925

Gene: NPHS1 KIRREL2

Linked Data

• ClinVar Variation Id: 259504
• ClinVar RCV Id: RCV000253934 ; RCV001124813 ; RCV001262358 ; RCV000962680 ; RCV002294148
• dbSNP Id: rs114595892
• ExAC: 19:36342579 G / C
• gnomAD v2: 19-36342579-G-C
• gnomAD v3: 19-35851677-G-C
• gnomAD v4: 19-35851677-G-C
• MyVariant Identifiers: chr19:g.36342579G>C (hg19) ; chr19:g.35851677G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35851677G>C , CM000681.2:g.35851677G>C	GRCh38
NC_000019.9:g.36342579G>C , CM000681.1:g.36342579G>C	GRCh37
NC_000019.8:g.41034419G>C	NCBI36
NG_013356.2:g.22611C>G , LRG_693:g.22611C>G
NG_051206.1:g.5043G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.59-5C>G (NPHS1) MANE Select	ENSP00000368190.4:n.59-5C>G
ENST00000353632.6:c.59-5C>G (NPHS1)	ENSP00000343634.5:n.59-5C>G
ENST00000378910.9:c.59-5C>G (NPHS1)	ENSP00000368190.4:n.59-5C>G
ENST00000591817.1:n.560-5C>G (NPHS1)
NM_004646.3:c.59-5C>G , LRG_693t1:c.59-5C>G (NPHS1)	NP_004637.1:n.59-5C>G
XM_011527362.1:c.-230G>C (KIRREL2)	XP_011525664.1:n.-230G>C
XM_011527363.1:c.-221G>C (KIRREL2)	XP_011525665.1:n.-221G>C
XM_011527364.1:c.-230G>C (KIRREL2)	XP_011525666.1:n.-230G>C
XM_011527365.1:c.-230G>C (KIRREL2)	XP_011525667.1:n.-230G>C
NM_004646.4:c.59-5C>G (NPHS1) MANE Select	NP_004637.1:n.59-5C>G