Canonical Allele Identifier: CA343568854

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179559711-G-T
• MyVariant Identifiers: chr1:g.179528846G>T (hg19) ; chr1:g.179559711G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559711G>T , CM000663.2:g.179559711G>T	GRCh38
NC_000001.10:g.179528846G>T , CM000663.1:g.179528846G>T	GRCh37
NC_000001.9:g.177795469G>T	NCBI36
NG_007535.1:g.21239C>A , LRG_887:g.21239C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.502C>A MANE Select	ENSP00000356587.4:p.Arg168Ser
ENST00000367615.8:c.502C>A	ENSP00000356587.4:p.Arg168Ser
ENST00000367616.4:c.502C>A	ENSP00000356588.4:p.Arg168Ser
NM_001297575.1:c.502C>A	NP_001284504.1:p.Arg168Ser
NM_014625.3:c.502C>A , LRG_887t1:c.502C>A	NP_055440.1:p.Arg168Ser
XM_005245483.2:c.325C>A	XP_005245540.1:p.Arg109Ser
XM_006711529.2:c.502C>A	XP_006711592.1:p.Arg168Ser
XM_005245483.3:c.325C>A	XP_005245540.1:p.Arg109Ser
XM_017002298.1:c.429C>A	XP_016857787.1:p.Phe143Leu
XM_017002299.1:c.502C>A	XP_016857788.1:p.Arg168Ser
NM_001297575.2:c.502C>A	NP_001284504.1:p.Arg168Ser
NM_014625.4:c.502C>A MANE Select	NP_055440.1:p.Arg168Ser