Canonical Allele Identifier: CA343566040

Gene: NPHS2 AXDND1

Linked Data

• gnomAD v4: 1-179552618-T-G
• MyVariant Identifiers: chr1:g.179521753T>G (hg19) ; chr1:g.179552618T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179552618T>G , CM000663.2:g.179552618T>G	GRCh38
NC_000001.10:g.179521753T>G , CM000663.1:g.179521753T>G	GRCh37
NC_000001.9:g.177788376T>G	NCBI36
NG_007535.1:g.28332A>C , LRG_887:g.28332A>C
NG_033075.1:g.191899T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.858A>C (NPHS2) MANE Select	ENSP00000356587.4:p.Arg286Ser
ENST00000367618.8:c.3032-1894T>G (AXDND1) MANE Select	ENSP00000356590.3:n.3032-1894T>G
ENST00000367615.8:c.858A>C (NPHS2)	ENSP00000356587.4:p.Arg286Ser
ENST00000367616.4:c.654A>C (NPHS2)	ENSP00000356588.4:p.Arg218Ser
ENST00000367618.7:c.3032-1894T>G (AXDND1)	ENSP00000356590.3:n.3032-1894T>G
ENST00000434088.1:c.2612-1894T>G (AXDND1)	ENSP00000391716.1:n.2612-1894T>G
ENST00000457238.6:c.*1011-1894T>G (AXDND1)	ENSP00000416712.3:n.*1011-1894T>G
ENST00000484455.1:n.471-1894T>G (AXDND1)
ENST00000484883.1:n.911-1894T>G (AXDND1)
ENST00000489080.1:n.1552T>G (AXDND1)
ENST00000511157.5:c.*1301-1894T>G (AXDND1)	ENSP00000424373.1:n.*1301-1894T>G
ENST00000617277.4:c.*1207-1894T>G (AXDND1)	ENSP00000482167.1:n.*1207-1894T>G
NM_001297575.1:c.654A>C (NPHS2)	NP_001284504.1:p.Arg218Ser
NM_014625.3:c.858A>C , LRG_887t1:c.858A>C (NPHS2)	NP_055440.1:p.Arg286Ser
NM_144696.5:c.3032-1894T>G (AXDND1)	NP_653297.3:n.3032-1894T>G
NR_073544.1:n.3152-1894T>G (AXDND1)
XM_005245483.2:c.681A>C (NPHS2)	XP_005245540.1:p.Arg227Ser
XM_006711529.2:c.858A>C (NPHS2)	XP_006711592.1:p.Arg286Ser
XM_011509165.1:c.3038-1894T>G (AXDND1)	XP_011507467.1:n.3038-1894T>G
XM_011509166.1:c.3038-1894T>G (AXDND1)	XP_011507468.1:n.3038-1894T>G
XM_011509167.1:c.3038-1894T>G (AXDND1)	XP_011507469.1:n.3038-1894T>G
XM_011509168.1:c.3038-1894T>G (AXDND1)	XP_011507470.1:n.3038-1894T>G
XM_011509169.1:c.2975-1894T>G (AXDND1)	XP_011507471.1:n.2975-1894T>G
XM_011509170.1:c.2930-1894T>G (AXDND1)	XP_011507472.1:n.2930-1894T>G
XM_011509171.1:c.2912-1894T>G (AXDND1)	XP_011507473.1:n.2912-1894T>G
XM_011509172.1:c.2912-1894T>G (AXDND1)	XP_011507474.1:n.2912-1894T>G
XM_011509173.1:c.2912-1894T>G (AXDND1)	XP_011507475.1:n.2912-1894T>G
XM_011509174.1:c.2816-1894T>G (AXDND1)	XP_011507476.1:n.2816-1894T>G
XM_011509175.1:c.2810-1894T>G (AXDND1)	XP_011507477.1:n.2810-1894T>G
XM_011509176.1:c.2741-1894T>G (AXDND1)	XP_011507478.1:n.2741-1894T>G
XM_011509179.1:c.2402-1894T>G (AXDND1)	XP_011507481.1:n.2402-1894T>G
XM_011509181.1:c.1961-1894T>G (AXDND1)	XP_011507483.1:n.1961-1894T>G
XM_005245483.3:c.681A>C (NPHS2)	XP_005245540.1:p.Arg227Ser
XM_011509166.3:c.3038-1894T>G (AXDND1)	XP_011507468.1:n.3038-1894T>G
XM_011509167.3:c.3038-1894T>G (AXDND1)	XP_011507469.1:n.3038-1894T>G
XM_011509179.2:c.2402-1894T>G (AXDND1)	XP_011507481.1:n.2402-1894T>G
XM_011509181.2:c.1961-1894T>G (AXDND1)	XP_011507483.1:n.1961-1894T>G
XM_017000257.2:c.2297-1894T>G (AXDND1)	XP_016855746.1:n.2297-1894T>G
XM_017000258.2:c.2159-1894T>G (AXDND1)	XP_016855747.1:n.2159-1894T>G
XM_017002298.1:c.525A>C (NPHS2)	XP_016857787.1:p.Arg175Ser
XM_017002299.1:c.*61A>C (NPHS2)	XP_016857788.1:n.*61A>C
XM_024453104.1:c.2912-1894T>G (AXDND1)	XP_024308872.1:n.2912-1894T>G
XM_024453107.1:c.2912-1894T>G (AXDND1)	XP_024308875.1:n.2912-1894T>G
NM_144696.6:c.3032-1894T>G (AXDND1) MANE Select	NP_653297.3:n.3032-1894T>G
NM_001297575.2:c.654A>C (NPHS2)	NP_001284504.1:p.Arg218Ser
NM_014625.4:c.858A>C (NPHS2) MANE Select	NP_055440.1:p.Arg286Ser
NR_073544.2:n.3080-1894T>G (AXDND1)