Canonical Allele Identifier: CA1045354141

Gene: EAF1-AS1 COLQ

Linked Data

• dbSNP Id: rs2061933281
• gnomAD v3: 3-15450922-T-C
• gnomAD v4: 3-15450922-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450922T>C , CM000665.2:g.15450922T>C	GRCh38
NC_000003.11:g.15492429T>C , CM000665.1:g.15492429T>C	GRCh37
NC_000003.10:g.15467433T>C	NCBI36
NG_009032.1:g.75830A>G
NG_009032.2:g.75830A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+523A>G (EAF1-AS1)
ENST00000626521.1:n.55+523A>G (EAF1-AS1)
ENST00000629729.3:c.414+523A>G	ENSP00000518887.1:n.414+523A>G
ENST00000383788.10:c.*722A>G (COLQ) MANE Select	ENSP00000373298.3:n.*722A>G
ENST00000679838.1:c.*1852A>G (COLQ)	ENSP00000505708.1:n.*1852A>G
ENST00000680545.1:n.1856A>G (COLQ)
ENST00000680897.1:n.1555A>G (COLQ)
ENST00000681097.1:c.*1104A>G (COLQ)	ENSP00000505397.1:n.*1104A>G
ENST00000681222.1:n.5581A>G (COLQ)
ENST00000383781.8:c.*722A>G (COLQ)	ENSP00000373291.3:n.*722A>G
ENST00000383788.9:c.*722A>G (COLQ)	ENSP00000373298.3:n.*722A>G
NM_005677.3:c.*722A>G (COLQ)	NP_005668.2:n.*722A>G
NM_080538.2:c.*722A>G (COLQ)	NP_536799.1:n.*722A>G
NM_080539.3:c.*722A>G (COLQ)	NP_536800.2:n.*722A>G
NM_005677.4:c.*722A>G (COLQ) MANE Select	NP_005668.2:n.*722A>G
NM_080539.4:c.*722A>G (COLQ)	NP_536800.2:n.*722A>G