Canonical Allele Identifier: CA9390907

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 259483
• ClinVar RCV Id: RCV000243577 ; RCV000588978 ; RCV001122045 ; RCV001272306 ; RCV002294139
• dbSNP Id: rs140626538
• ExAC: 19:36342505 A / G
• gnomAD v2: 19-36342505-A-G
• gnomAD v3: 19-35851603-A-G
• gnomAD v4: 19-35851603-A-G
• MyVariant Identifiers: chr19:g.36342505A>G (hg19) ; chr19:g.35851603A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35851603A>G , CM000681.2:g.35851603A>G	GRCh38
NC_000019.9:g.36342505A>G , CM000681.1:g.36342505A>G	GRCh37
NC_000019.8:g.41034345A>G	NCBI36
NG_013356.2:g.22685T>C , LRG_693:g.22685T>C
NG_051206.1:g.4969A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.128T>C MANE Select	ENSP00000368190.4:p.Val43Ala
ENST00000353632.6:c.128T>C	ENSP00000343634.5:p.Val43Ala
ENST00000378910.9:c.128T>C	ENSP00000368190.4:p.Val43Ala
NM_004646.3:c.128T>C , LRG_693t1:c.128T>C	NP_004637.1:p.Val43Ala
NM_004646.4:c.128T>C MANE Select	NP_004637.1:p.Val43Ala