Canonical Allele Identifier: CA633061076

Gene: NPHS1

Linked Data

• dbSNP Id: rs1568456267
• gnomAD v2: 19-36340126-GT-G
• gnomAD v4: 19-35849224-GT-G
• MyVariant Identifiers: chr19:g.36340127del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35849227del , CM000681.2:g.35849227del	GRCh38
NC_000019.9:g.36340129del , CM000681.1:g.36340129del	GRCh37
NC_000019.8:g.41031969del	NCBI36
NG_013356.2:g.25063del , LRG_693:g.25063del
NG_051206.1:g.2593del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.840+11del MANE Select	ENSP00000368190.4:n.840+11del
ENST00000353632.6:c.840+11del	ENSP00000343634.5:n.840+11del
ENST00000378910.9:c.840+11del	ENSP00000368190.4:n.840+11del
NM_004646.3:c.840+11del , LRG_693t1:c.840+11del	NP_004637.1:n.840+11del
NM_004646.4:c.840+11del MANE Select	NP_004637.1:n.840+11del