Canonical Allele Identifier: CA507075953

Gene: NPHS1

Linked Data

• dbSNP Id: rs1973068387
• gnomAD v4: 19-35842204-G-A
• MyVariant Identifiers: chr19:g.36333106G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35842204G>A , CM000681.2:g.35842204G>A	GRCh38
NC_000019.9:g.36333106G>A , CM000681.1:g.36333106G>A	GRCh37
NC_000019.8:g.41024946G>A	NCBI36
NG_013356.2:g.32084C>T , LRG_693:g.32084C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.2583C>T MANE Select	ENSP00000368190.4:p.Leu861=
ENST00000353632.6:c.2583C>T	ENSP00000343634.5:p.Leu861=
ENST00000378910.9:c.2583C>T	ENSP00000368190.4:p.Leu861=
NM_004646.3:c.2583C>T , LRG_693t1:c.2583C>T	NP_004637.1:p.Leu861=
NM_004646.4:c.2583C>T MANE Select	NP_004637.1:p.Leu861=