Canonical Allele Identifier: CA9390290

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 259485
• ClinVar RCV Id: RCV000253090 ; RCV000302690 ; RCV000712422 ; RCV001275393 ; RCV002294140
• dbSNP Id: rs76131336
• ExAC: 19:36336260 G / A
• gnomAD v2: 19-36336260-G-A
• gnomAD v3: 19-35845358-G-A
• gnomAD v4: 19-35845358-G-A
• MyVariant Identifiers: chr19:g.36336260G>A (hg19) ; chr19:g.35845358G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35845358G>A , CM000681.2:g.35845358G>A	GRCh38
NC_000019.9:g.36336260G>A , CM000681.1:g.36336260G>A	GRCh37
NC_000019.8:g.41028100G>A	NCBI36
NG_013356.2:g.28930C>T , LRG_693:g.28930C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1930+10C>T MANE Select	ENSP00000368190.4:n.1930+10C>T
ENST00000353632.6:c.1930+10C>T	ENSP00000343634.5:n.1930+10C>T
ENST00000378910.9:c.1930+10C>T	ENSP00000368190.4:n.1930+10C>T
ENST00000585400.1:n.112+41C>T
NM_004646.3:c.1930+10C>T , LRG_693t1:c.1930+10C>T	NP_004637.1:n.1930+10C>T
NM_004646.4:c.1930+10C>T MANE Select	NP_004637.1:n.1930+10C>T