Canonical Allele Identifier: CA9390931

Gene: NPHS1 KIRREL2

Linked Data

• ClinVar Variation Id: 259503
• ClinVar RCV Id: RCV000249363 ; RCV002058168 ; RCV002487129
• dbSNP Id: rs115350784
• ExAC: 19:36342593 G / T
• gnomAD v2: 19-36342593-G-T
• gnomAD v3: 19-35851691-G-T
• gnomAD v4: 19-35851691-G-T
• MyVariant Identifiers: chr19:g.36342593G>T (hg19) ; chr19:g.35851691G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35851691G>T , CM000681.2:g.35851691G>T	GRCh38
NC_000019.9:g.36342593G>T , CM000681.1:g.36342593G>T	GRCh37
NC_000019.8:g.41034433G>T	NCBI36
NG_013356.2:g.22597C>A , LRG_693:g.22597C>A
NG_051206.1:g.5057G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.59-19C>A (NPHS1) MANE Select	ENSP00000368190.4:n.59-19C>A
ENST00000353632.6:c.59-19C>A (NPHS1)	ENSP00000343634.5:n.59-19C>A
ENST00000378910.9:c.59-19C>A (NPHS1)	ENSP00000368190.4:n.59-19C>A
ENST00000591817.1:n.560-19C>A (NPHS1)
NM_004646.3:c.59-19C>A , LRG_693t1:c.59-19C>A (NPHS1)	NP_004637.1:n.59-19C>A
XM_011527362.1:c.-216G>T (KIRREL2)	XP_011525664.1:n.-216G>T
XM_011527363.1:c.-207G>T (KIRREL2)	XP_011525665.1:n.-207G>T
XM_011527364.1:c.-216G>T (KIRREL2)	XP_011525666.1:n.-216G>T
XM_011527365.1:c.-216G>T (KIRREL2)	XP_011525667.1:n.-216G>T
NM_004646.4:c.59-19C>A (NPHS1) MANE Select	NP_004637.1:n.59-19C>A