Canonical Allele Identifier: CA9390910

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 328883
• ClinVar RCV Id: RCV000370301 ; RCV000889383 ; RCV001828323 ; RCV002521211 ; RCV002294275 ; RCV003922400
• dbSNP Id: rs375670819
• ExAC: 19:36342518 C / T
• gnomAD v2: 19-36342518-C-T
• gnomAD v3: 19-35851616-C-T
• gnomAD v4: 19-35851616-C-T
• COSMIC: COSM3532793
• MyVariant Identifiers: chr19:g.36342518C>T (hg19) ; chr19:g.35851616C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35851616C>T , CM000681.2:g.35851616C>T	GRCh38
NC_000019.9:g.36342518C>T , CM000681.1:g.36342518C>T	GRCh37
NC_000019.8:g.41034358C>T	NCBI36
NG_013356.2:g.22672G>A , LRG_693:g.22672G>A
NG_051206.1:g.4982C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.115G>A MANE Select	ENSP00000368190.4:p.Glu39Lys
ENST00000353632.6:c.115G>A	ENSP00000343634.5:p.Glu39Lys
ENST00000378910.9:c.115G>A	ENSP00000368190.4:p.Glu39Lys
NM_004646.3:c.115G>A , LRG_693t1:c.115G>A	NP_004637.1:p.Glu39Lys
NM_004646.4:c.115G>A MANE Select	NP_004637.1:p.Glu39Lys