Canonical Allele Identifier: CA354148
Gene: NPHS2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.179575915C>A
GRCh37 chr1:g.179545050C>A
gnomAD v2:
1:179545050 C / A
gnomAD v3:
1:179575915 C / A
gnomAD v4:
chr1-179575915-C-A
Joint Max Group AF 0.27686833 (AMR)
Genomes Max Group AF 0.2692455 (NFE)
Exomes Max Group AF 0.29081151 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179575915C>A , CM000663.2:g.179575915C>A GRCh38
NC_000001.10:g.179545050C>A , CM000663.1:g.179545050C>A GRCh37
NC_000001.9:g.177811673C>A NCBI36
NG_007535.1:g.5035G>T , LRG_887:g.5035G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.-51G>T MANE Select ENSP00000356587.4:n.-51G>T
ENST00000367615.8:c.-51G>T ENSP00000356587.4:n.-51G>T
ENST00000367616.4:c.-51G>T ENSP00000356588.4:n.-51G>T
NM_001297575.1:c.-51G>T NP_001284504.1:n.-51G>T
NM_014625.3:c.-51G>T , LRG_887t1:c.-51G>T NP_055440.1:n.-51G>T
XM_005245483.2:c.-51G>T XP_005245540.1:n.-51G>T
XM_006711529.2:c.-51G>T XP_006711592.1:n.-51G>T
XM_005245483.3:c.-51G>T XP_005245540.1:n.-51G>T
XM_017002298.1:c.-51G>T XP_016857787.1:n.-51G>T
XM_017002299.1:c.-51G>T XP_016857788.1:n.-51G>T
NM_001297575.2:c.-51G>T NP_001284504.1:n.-51G>T
NM_014625.4:c.-51G>T MANE Select NP_055440.1:n.-51G>T
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