Canonical Allele Identifier: CA343566478

Gene: NPHS2 AXDND1

Linked Data

• dbSNP Id: rs1673790089
• gnomAD v3: 1-179554512-G-A
• gnomAD v4: 1-179554512-G-A
• COSMIC: COSM5916994 ; COSM5916995
• MyVariant Identifiers: chr1:g.179523647G>A (hg19) ; chr1:g.179554512G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179554512G>A , CM000663.2:g.179554512G>A	GRCh38
NC_000001.10:g.179523647G>A , CM000663.1:g.179523647G>A	GRCh37
NC_000001.9:g.177790270G>A	NCBI36
NG_007535.1:g.26438C>T , LRG_887:g.26438C>T
NG_033075.1:g.193793G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.758C>T (NPHS2) MANE Select	ENSP00000356587.4:p.Thr253Ile
ENST00000367618.8:c.3032G>A (AXDND1) MANE Select	ENSP00000356590.3:p.Gly1011Asp
ENST00000367615.8:c.758C>T (NPHS2)	ENSP00000356587.4:p.Thr253Ile
ENST00000367616.4:c.554C>T (NPHS2)	ENSP00000356588.4:p.Thr185Ile
ENST00000367618.7:c.3032G>A (AXDND1)	ENSP00000356590.3:p.Gly1011Asp
ENST00000434088.1:c.2612G>A (AXDND1)	ENSP00000391716.1:p.Gly871Asp
ENST00000457238.6:c.*1011G>A (AXDND1)	ENSP00000416712.3:n.*1011G>A
ENST00000484455.1:n.471G>A (AXDND1)
ENST00000484883.1:n.911G>A (AXDND1)
ENST00000489080.1:n.1636G>A (AXDND1)
ENST00000511157.5:c.*1301G>A (AXDND1)	ENSP00000424373.1:n.*1301G>A
ENST00000617277.4:c.*1207G>A (AXDND1)	ENSP00000482167.1:n.*1207G>A
NM_001297575.1:c.554C>T (NPHS2)	NP_001284504.1:p.Thr185Ile
NM_014625.3:c.758C>T , LRG_887t1:c.758C>T (NPHS2)	NP_055440.1:p.Thr253Ile
NM_144696.5:c.3032G>A (AXDND1)	NP_653297.3:p.Gly1011Asp
NR_073544.1:n.3152G>A (AXDND1)
XM_005245483.2:c.581C>T (NPHS2)	XP_005245540.1:p.Thr194Ile
XM_006711529.2:c.758C>T (NPHS2)	XP_006711592.1:p.Thr253Ile
XM_011509165.1:c.3038G>A (AXDND1)	XP_011507467.1:p.Gly1013Asp
XM_011509166.1:c.3038G>A (AXDND1)	XP_011507468.1:p.Gly1013Asp
XM_011509167.1:c.3038G>A (AXDND1)	XP_011507469.1:p.Gly1013Asp
XM_011509168.1:c.3038G>A (AXDND1)	XP_011507470.1:p.Gly1013Asp
XM_011509169.1:c.2975G>A (AXDND1)	XP_011507471.1:p.Gly992Asp
XM_011509170.1:c.2930G>A (AXDND1)	XP_011507472.1:p.Gly977Asp
XM_011509171.1:c.2912G>A (AXDND1)	XP_011507473.1:p.Gly971Asp
XM_011509172.1:c.2912G>A (AXDND1)	XP_011507474.1:p.Gly971Asp
XM_011509173.1:c.2912G>A (AXDND1)	XP_011507475.1:p.Gly971Asp
XM_011509174.1:c.2816G>A (AXDND1)	XP_011507476.1:p.Gly939Asp
XM_011509175.1:c.2810G>A (AXDND1)	XP_011507477.1:p.Gly937Asp
XM_011509176.1:c.2741G>A (AXDND1)	XP_011507478.1:p.Gly914Asp
XM_011509179.1:c.2402G>A (AXDND1)	XP_011507481.1:p.Gly801Asp
XM_011509181.1:c.1961G>A (AXDND1)	XP_011507483.1:p.Gly654Asp
XM_005245483.3:c.581C>T (NPHS2)	XP_005245540.1:p.Thr194Ile
XM_011509166.3:c.3038G>A (AXDND1)	XP_011507468.1:p.Gly1013Asp
XM_011509167.3:c.3038G>A (AXDND1)	XP_011507469.1:p.Gly1013Asp
XM_011509179.2:c.2402G>A (AXDND1)	XP_011507481.1:p.Gly801Asp
XM_011509181.2:c.1961G>A (AXDND1)	XP_011507483.1:p.Gly654Asp
XM_017000257.2:c.2297G>A (AXDND1)	XP_016855746.1:p.Gly766Asp
XM_017000258.2:c.2159G>A (AXDND1)	XP_016855747.1:p.Gly720Asp
XM_017002298.1:c.462-1831C>T (NPHS2)	XP_016857787.1:n.462-1831C>T
XM_017002299.1:c.535-1831C>T (NPHS2)	XP_016857788.1:n.535-1831C>T
XM_024453104.1:c.2912G>A (AXDND1)	XP_024308872.1:p.Gly971Asp
XM_024453107.1:c.2912G>A (AXDND1)	XP_024308875.1:p.Gly971Asp
NM_144696.6:c.3032G>A (AXDND1) MANE Select	NP_653297.3:p.Gly1011Asp
NM_001297575.2:c.554C>T (NPHS2)	NP_001284504.1:p.Thr185Ile
NM_014625.4:c.758C>T (NPHS2) MANE Select	NP_055440.1:p.Thr253Ile
NR_073544.2:n.3080G>A (AXDND1)