Canonical Allele Identifier: CA2664660041

Gene: EAF1-AS1 COLQ

Linked Data

• gnomAD v4: 3-15451150-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15451150T>C , CM000665.2:g.15451150T>C	GRCh38
NC_000003.11:g.15492657T>C , CM000665.1:g.15492657T>C	GRCh37
NC_000003.10:g.15467661T>C	NCBI36
NG_009032.1:g.75602A>G
NG_009032.2:g.75602A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+295A>G (EAF1-AS1)
ENST00000626521.1:n.55+295A>G (EAF1-AS1)
ENST00000629729.3:c.414+295A>G	ENSP00000518887.1:n.414+295A>G
ENST00000383788.10:c.*494A>G (COLQ) MANE Select	ENSP00000373298.3:n.*494A>G
ENST00000604401.2:n.1718A>G (COLQ)
ENST00000679838.1:c.*1624A>G (COLQ)	ENSP00000505708.1:n.*1624A>G
ENST00000680545.1:n.1628A>G (COLQ)
ENST00000680897.1:n.1327A>G (COLQ)
ENST00000681097.1:c.*876A>G (COLQ)	ENSP00000505397.1:n.*876A>G
ENST00000681222.1:n.5353A>G (COLQ)
ENST00000383781.8:c.*494A>G (COLQ)	ENSP00000373291.3:n.*494A>G
ENST00000383788.9:c.*494A>G (COLQ)	ENSP00000373298.3:n.*494A>G
NM_005677.3:c.*494A>G (COLQ)	NP_005668.2:n.*494A>G
NM_080538.2:c.*494A>G (COLQ)	NP_536799.1:n.*494A>G
NM_080539.3:c.*494A>G (COLQ)	NP_536800.2:n.*494A>G
NM_005677.4:c.*494A>G (COLQ) MANE Select	NP_005668.2:n.*494A>G
NM_080539.4:c.*494A>G (COLQ)	NP_536800.2:n.*494A>G