Canonical Allele Identifier: CA1026102
Community Standard Title: NM_001007237.3(IGSF3):c.3060C>G (p.Asp1020Glu)
Gene: IGSF3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.116579666G>C , CM000663.2:g.116579666G>C GRCh38
NC_000001.10:g.117122288G>C , CM000663.1:g.117122288G>C GRCh37
NC_000001.9:g.116923811G>C NCBI36
NG_050917.1:g.93090C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001007237.3:c.3060C>G MANE Select NP_001007238.1:p.Asp1020Glu
ENST00000369486.8:c.3060C>G MANE Select ENSP00000358498.4:p.Asp1020Glu
NM_001007237.2:c.3060C>G NP_001007238.1:p.Asp1020Glu
NM_001542.3:c.3120C>G NP_001533.2:p.Asp1040Glu
NM_001542.4:c.3120C>G NP_001533.2:p.Asp1040Glu
ENST00000318837.6:c.3120C>G ENSP00000321184.6:p.Asp1040Glu
ENST00000369483.5:c.3120C>G ENSP00000358495.1:p.Asp1040Glu
ENST00000369486.7:c.3060C>G ENSP00000358498.3:p.Asp1020Glu
XM_005270793.2:c.3120C>G XP_005270850.1:p.Asp1040Glu
XM_005270794.3:c.3075C>G XP_005270851.1:p.Asp1025Glu
XM_005270794.4:c.3075C>G XP_005270851.1:p.Asp1025Glu
XM_006710593.2:c.3135C>G XP_006710656.1:p.Asp1045Glu
XM_006710593.3:c.3135C>G XP_006710656.1:p.Asp1045Glu
XM_011541315.1:c.3120C>G XP_011539617.1:p.Asp1040Glu
XM_011541316.1:c.1449C>G XP_011539618.1:p.Asp483Glu
XM_011541316.2:c.1449C>G XP_011539618.1:p.Asp483Glu