Canonical Allele Identifier: CA1045354153

Gene: EAF1-AS1 COLQ

Linked Data

• dbSNP Id: rs2061934017
• gnomAD v3: 3-15450986-C-A
• gnomAD v4: 3-15450986-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450986C>A , CM000665.2:g.15450986C>A	GRCh38
NC_000003.11:g.15492493C>A , CM000665.1:g.15492493C>A	GRCh37
NC_000003.10:g.15467497C>A	NCBI36
NG_009032.1:g.75766G>T
NG_009032.2:g.75766G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+459G>T (EAF1-AS1)
ENST00000626521.1:n.55+459G>T (EAF1-AS1)
ENST00000629729.3:c.414+459G>T	ENSP00000518887.1:n.414+459G>T
ENST00000383788.10:c.*658G>T (COLQ) MANE Select	ENSP00000373298.3:n.*658G>T
ENST00000679838.1:c.*1788G>T (COLQ)	ENSP00000505708.1:n.*1788G>T
ENST00000680545.1:n.1792G>T (COLQ)
ENST00000680897.1:n.1491G>T (COLQ)
ENST00000681097.1:c.*1040G>T (COLQ)	ENSP00000505397.1:n.*1040G>T
ENST00000681222.1:n.5517G>T (COLQ)
ENST00000383781.8:c.*658G>T (COLQ)	ENSP00000373291.3:n.*658G>T
ENST00000383788.9:c.*658G>T (COLQ)	ENSP00000373298.3:n.*658G>T
NM_005677.3:c.*658G>T (COLQ)	NP_005668.2:n.*658G>T
NM_080538.2:c.*658G>T (COLQ)	NP_536799.1:n.*658G>T
NM_080539.3:c.*658G>T (COLQ)	NP_536800.2:n.*658G>T
NM_005677.4:c.*658G>T (COLQ) MANE Select	NP_005668.2:n.*658G>T
NM_080539.4:c.*658G>T (COLQ)	NP_536800.2:n.*658G>T