Canonical Allele Identifier: CA343565163

Gene: NPHS2 AXDND1

Linked Data

• COSMIC: COSM4425715
• MyVariant Identifiers: chr1:g.179520329C>A (hg19) ; chr1:g.179551194C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179551194C>A , CM000663.2:g.179551194C>A	GRCh38
NC_000001.10:g.179520329C>A , CM000663.1:g.179520329C>A	GRCh37
NC_000001.9:g.177786952C>A	NCBI36
NG_007535.1:g.29756G>T , LRG_887:g.29756G>T
NG_033075.1:g.190475C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.1131G>T (NPHS2) MANE Select	ENSP00000356587.4:p.Lys377Asn
ENST00000367618.8:c.3032-3318C>A (AXDND1) MANE Select	ENSP00000356590.3:n.3032-3318C>A
ENST00000367615.8:c.1131G>T (NPHS2)	ENSP00000356587.4:p.Lys377Asn
ENST00000367616.4:c.927G>T (NPHS2)	ENSP00000356588.4:p.Lys309Asn
ENST00000367618.7:c.3032-3318C>A (AXDND1)	ENSP00000356590.3:n.3032-3318C>A
ENST00000434088.1:c.2612-3318C>A (AXDND1)	ENSP00000391716.1:n.2612-3318C>A
ENST00000457238.6:c.*1011-3318C>A (AXDND1)	ENSP00000416712.3:n.*1011-3318C>A
ENST00000484455.1:n.471-3318C>A (AXDND1)
ENST00000484883.1:n.911-3318C>A (AXDND1)
ENST00000489080.1:n.128C>A (AXDND1)
ENST00000511157.5:c.*1301-3318C>A (AXDND1)	ENSP00000424373.1:n.*1301-3318C>A
ENST00000617277.4:c.*1207-3318C>A (AXDND1)	ENSP00000482167.1:n.*1207-3318C>A
NM_001297575.1:c.927G>T (NPHS2)	NP_001284504.1:p.Lys309Asn
NM_014625.3:c.1131G>T , LRG_887t1:c.1131G>T (NPHS2)	NP_055440.1:p.Lys377Asn
NM_144696.5:c.3032-3318C>A (AXDND1)	NP_653297.3:n.3032-3318C>A
NR_073544.1:n.3152-3318C>A (AXDND1)
XM_005245483.2:c.954G>T (NPHS2)	XP_005245540.1:p.Lys318Asn
XM_011509165.1:c.3038-3318C>A (AXDND1)	XP_011507467.1:n.3038-3318C>A
XM_011509166.1:c.3038-3318C>A (AXDND1)	XP_011507468.1:n.3038-3318C>A
XM_011509167.1:c.3038-3318C>A (AXDND1)	XP_011507469.1:n.3038-3318C>A
XM_011509168.1:c.3038-3318C>A (AXDND1)	XP_011507470.1:n.3038-3318C>A
XM_011509169.1:c.2975-3318C>A (AXDND1)	XP_011507471.1:n.2975-3318C>A
XM_011509170.1:c.2930-3318C>A (AXDND1)	XP_011507472.1:n.2930-3318C>A
XM_011509171.1:c.2912-3318C>A (AXDND1)	XP_011507473.1:n.2912-3318C>A
XM_011509172.1:c.2912-3318C>A (AXDND1)	XP_011507474.1:n.2912-3318C>A
XM_011509173.1:c.2912-3318C>A (AXDND1)	XP_011507475.1:n.2912-3318C>A
XM_011509174.1:c.2816-3318C>A (AXDND1)	XP_011507476.1:n.2816-3318C>A
XM_011509175.1:c.2810-3318C>A (AXDND1)	XP_011507477.1:n.2810-3318C>A
XM_011509176.1:c.2741-3318C>A (AXDND1)	XP_011507478.1:n.2741-3318C>A
XM_011509179.1:c.2402-3318C>A (AXDND1)	XP_011507481.1:n.2402-3318C>A
XM_011509181.1:c.1961-3318C>A (AXDND1)	XP_011507483.1:n.1961-3318C>A
XM_005245483.3:c.954G>T (NPHS2)	XP_005245540.1:p.Lys318Asn
XM_011509166.3:c.3038-3318C>A (AXDND1)	XP_011507468.1:n.3038-3318C>A
XM_011509167.3:c.3038-3318C>A (AXDND1)	XP_011507469.1:n.3038-3318C>A
XM_011509179.2:c.2402-3318C>A (AXDND1)	XP_011507481.1:n.2402-3318C>A
XM_011509181.2:c.1961-3318C>A (AXDND1)	XP_011507483.1:n.1961-3318C>A
XM_017000257.2:c.2297-3318C>A (AXDND1)	XP_016855746.1:n.2297-3318C>A
XM_017000258.2:c.2159-3318C>A (AXDND1)	XP_016855747.1:n.2159-3318C>A
XM_017002298.1:c.798G>T (NPHS2)	XP_016857787.1:p.Lys266Asn
XM_024453104.1:c.2912-3318C>A (AXDND1)	XP_024308872.1:n.2912-3318C>A
XM_024453107.1:c.2912-3318C>A (AXDND1)	XP_024308875.1:n.2912-3318C>A
NM_144696.6:c.3032-3318C>A (AXDND1) MANE Select	NP_653297.3:n.3032-3318C>A
NM_001297575.2:c.927G>T (NPHS2)	NP_001284504.1:p.Lys309Asn
NM_014625.4:c.1131G>T (NPHS2) MANE Select	NP_055440.1:p.Lys377Asn
NR_073544.2:n.3080-3318C>A (AXDND1)