Canonical Allele Identifier: CA1347573658
Gene: EAF1-AS1 HGNC NCBI
COLQ HGNC NCBI

Linked Data

dbSNP Id: rs2061929983

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15450746T>A , CM000665.2:g.15450746T>A GRCh38
NC_000003.11:g.15492253T>A , CM000665.1:g.15492253T>A GRCh37
NC_000003.10:g.15467257T>A NCBI36
NG_009032.1:g.76006A>T
NG_009032.2:g.76006A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000608408.2:n.398+699A>T (EAF1-AS1)
ENST00000626521.1:n.55+699A>T (EAF1-AS1)
ENST00000629729.3:c.414+699A>T ENSP00000518887.1:n.414+699A>T
ENST00000383788.10:c.*898A>T (COLQ) MANE Select ENSP00000373298.3:n.*898A>T
ENST00000679838.1:c.*2028A>T (COLQ) ENSP00000505708.1:n.*2028A>T
ENST00000680545.1:n.2032A>T (COLQ)
ENST00000680897.1:n.1731A>T (COLQ)
ENST00000681097.1:c.*1280A>T (COLQ) ENSP00000505397.1:n.*1280A>T
ENST00000681222.1:n.5757A>T (COLQ)
ENST00000383781.8:c.*898A>T (COLQ) ENSP00000373291.3:n.*898A>T
ENST00000383788.9:c.*898A>T (COLQ) ENSP00000373298.3:n.*898A>T
ENST00000603752.1:n.134A>T (COLQ)
NM_005677.3:c.*898A>T (COLQ) NP_005668.2:n.*898A>T
NM_080538.2:c.*898A>T (COLQ) NP_536799.1:n.*898A>T
NM_080539.3:c.*898A>T (COLQ) NP_536800.2:n.*898A>T
NM_005677.4:c.*898A>T (COLQ) MANE Select NP_005668.2:n.*898A>T
NM_080539.4:c.*898A>T (COLQ) NP_536800.2:n.*898A>T