Canonical Allele Identifier: CA995499269

Gene: NPHS1

Linked Data

• dbSNP Id: rs1973070985
• gnomAD v3: 19-35842307-A-G
• gnomAD v4: 19-35842307-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35842307A>G , CM000681.2:g.35842307A>G	GRCh38
NC_000019.9:g.36333209A>G , CM000681.1:g.36333209A>G	GRCh37
NC_000019.8:g.41025049A>G	NCBI36
NG_013356.2:g.31981T>C , LRG_693:g.31981T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.2507-27T>C MANE Select	ENSP00000368190.4:n.2507-27T>C
ENST00000353632.6:c.2507-27T>C	ENSP00000343634.5:n.2507-27T>C
ENST00000378910.9:c.2507-27T>C	ENSP00000368190.4:n.2507-27T>C
NM_004646.3:c.2507-27T>C , LRG_693t1:c.2507-27T>C	NP_004637.1:n.2507-27T>C
NM_004646.4:c.2507-27T>C MANE Select	NP_004637.1:n.2507-27T>C