Canonical Allele Identifier: CA346568

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 180464
• ClinVar RCV Id: RCV000157400 ; RCV000354078 ; RCV000879498 ; RCV002294058 ; RCV001094540
• dbSNP Id: rs114615449
• ExAC: 19:36336398 C / G
• gnomAD v2: 19-36336398-C-G
• gnomAD v3: 19-35845496-C-G
• gnomAD v4: 19-35845496-C-G
• MyVariant Identifiers: chr19:g.36336398C>G (hg19) ; chr19:g.35845496C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35845496C>G , CM000681.2:g.35845496C>G	GRCh38
NC_000019.9:g.36336398C>G , CM000681.1:g.36336398C>G	GRCh37
NC_000019.8:g.41028238C>G	NCBI36
NG_013356.2:g.28792G>C , LRG_693:g.28792G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1802G>C MANE Select	ENSP00000368190.4:p.Gly601Ala
ENST00000353632.6:c.1802G>C	ENSP00000343634.5:p.Gly601Ala
ENST00000378910.9:c.1802G>C	ENSP00000368190.4:p.Gly601Ala
ENST00000585400.1:n.15G>C
NM_004646.3:c.1802G>C , LRG_693t1:c.1802G>C	NP_004637.1:p.Gly601Ala
NM_004646.4:c.1802G>C MANE Select	NP_004637.1:p.Gly601Ala