Canonical Allele Identifier: CA343566043

Gene: NPHS2 AXDND1

Linked Data

• gnomAD v4: 1-179552619-C-G
• MyVariant Identifiers: chr1:g.179521754C>G (hg19) ; chr1:g.179552619C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179552619C>G , CM000663.2:g.179552619C>G	GRCh38
NC_000001.10:g.179521754C>G , CM000663.1:g.179521754C>G	GRCh37
NC_000001.9:g.177788377C>G	NCBI36
NG_007535.1:g.28331G>C , LRG_887:g.28331G>C
NG_033075.1:g.191900C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.857G>C (NPHS2) MANE Select	ENSP00000356587.4:p.Arg286Thr
ENST00000367618.8:c.3032-1893C>G (AXDND1) MANE Select	ENSP00000356590.3:n.3032-1893C>G
ENST00000367615.8:c.857G>C (NPHS2)	ENSP00000356587.4:p.Arg286Thr
ENST00000367616.4:c.653G>C (NPHS2)	ENSP00000356588.4:p.Arg218Thr
ENST00000367618.7:c.3032-1893C>G (AXDND1)	ENSP00000356590.3:n.3032-1893C>G
ENST00000434088.1:c.2612-1893C>G (AXDND1)	ENSP00000391716.1:n.2612-1893C>G
ENST00000457238.6:c.*1011-1893C>G (AXDND1)	ENSP00000416712.3:n.*1011-1893C>G
ENST00000484455.1:n.471-1893C>G (AXDND1)
ENST00000484883.1:n.911-1893C>G (AXDND1)
ENST00000489080.1:n.1553C>G (AXDND1)
ENST00000511157.5:c.*1301-1893C>G (AXDND1)	ENSP00000424373.1:n.*1301-1893C>G
ENST00000617277.4:c.*1207-1893C>G (AXDND1)	ENSP00000482167.1:n.*1207-1893C>G
NM_001297575.1:c.653G>C (NPHS2)	NP_001284504.1:p.Arg218Thr
NM_014625.3:c.857G>C , LRG_887t1:c.857G>C (NPHS2)	NP_055440.1:p.Arg286Thr
NM_144696.5:c.3032-1893C>G (AXDND1)	NP_653297.3:n.3032-1893C>G
NR_073544.1:n.3152-1893C>G (AXDND1)
XM_005245483.2:c.680G>C (NPHS2)	XP_005245540.1:p.Arg227Thr
XM_006711529.2:c.857G>C (NPHS2)	XP_006711592.1:p.Arg286Thr
XM_011509165.1:c.3038-1893C>G (AXDND1)	XP_011507467.1:n.3038-1893C>G
XM_011509166.1:c.3038-1893C>G (AXDND1)	XP_011507468.1:n.3038-1893C>G
XM_011509167.1:c.3038-1893C>G (AXDND1)	XP_011507469.1:n.3038-1893C>G
XM_011509168.1:c.3038-1893C>G (AXDND1)	XP_011507470.1:n.3038-1893C>G
XM_011509169.1:c.2975-1893C>G (AXDND1)	XP_011507471.1:n.2975-1893C>G
XM_011509170.1:c.2930-1893C>G (AXDND1)	XP_011507472.1:n.2930-1893C>G
XM_011509171.1:c.2912-1893C>G (AXDND1)	XP_011507473.1:n.2912-1893C>G
XM_011509172.1:c.2912-1893C>G (AXDND1)	XP_011507474.1:n.2912-1893C>G
XM_011509173.1:c.2912-1893C>G (AXDND1)	XP_011507475.1:n.2912-1893C>G
XM_011509174.1:c.2816-1893C>G (AXDND1)	XP_011507476.1:n.2816-1893C>G
XM_011509175.1:c.2810-1893C>G (AXDND1)	XP_011507477.1:n.2810-1893C>G
XM_011509176.1:c.2741-1893C>G (AXDND1)	XP_011507478.1:n.2741-1893C>G
XM_011509179.1:c.2402-1893C>G (AXDND1)	XP_011507481.1:n.2402-1893C>G
XM_011509181.1:c.1961-1893C>G (AXDND1)	XP_011507483.1:n.1961-1893C>G
XM_005245483.3:c.680G>C (NPHS2)	XP_005245540.1:p.Arg227Thr
XM_011509166.3:c.3038-1893C>G (AXDND1)	XP_011507468.1:n.3038-1893C>G
XM_011509167.3:c.3038-1893C>G (AXDND1)	XP_011507469.1:n.3038-1893C>G
XM_011509179.2:c.2402-1893C>G (AXDND1)	XP_011507481.1:n.2402-1893C>G
XM_011509181.2:c.1961-1893C>G (AXDND1)	XP_011507483.1:n.1961-1893C>G
XM_017000257.2:c.2297-1893C>G (AXDND1)	XP_016855746.1:n.2297-1893C>G
XM_017000258.2:c.2159-1893C>G (AXDND1)	XP_016855747.1:n.2159-1893C>G
XM_017002298.1:c.524G>C (NPHS2)	XP_016857787.1:p.Arg175Thr
XM_017002299.1:c.*60G>C (NPHS2)	XP_016857788.1:n.*60G>C
XM_024453104.1:c.2912-1893C>G (AXDND1)	XP_024308872.1:n.2912-1893C>G
XM_024453107.1:c.2912-1893C>G (AXDND1)	XP_024308875.1:n.2912-1893C>G
NM_144696.6:c.3032-1893C>G (AXDND1) MANE Select	NP_653297.3:n.3032-1893C>G
NM_001297575.2:c.653G>C (NPHS2)	NP_001284504.1:p.Arg218Thr
NM_014625.4:c.857G>C (NPHS2) MANE Select	NP_055440.1:p.Arg286Thr
NR_073544.2:n.3080-1893C>G (AXDND1)