Canonical Allele Identifier: CA1045354090

Gene: EAF1-AS1 COLQ

Linked Data

• dbSNP Id: rs2061930504
• gnomAD v3: 3-15450760-G-C
• gnomAD v4: 3-15450760-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450760G>C , CM000665.2:g.15450760G>C	GRCh38
NC_000003.11:g.15492267G>C , CM000665.1:g.15492267G>C	GRCh37
NC_000003.10:g.15467271G>C	NCBI36
NG_009032.1:g.75992C>G
NG_009032.2:g.75992C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+685C>G (EAF1-AS1)
ENST00000626521.1:n.55+685C>G (EAF1-AS1)
ENST00000629729.3:c.414+685C>G	ENSP00000518887.1:n.414+685C>G
ENST00000383788.10:c.*884C>G (COLQ) MANE Select	ENSP00000373298.3:n.*884C>G
ENST00000679838.1:c.*2014C>G (COLQ)	ENSP00000505708.1:n.*2014C>G
ENST00000680545.1:n.2018C>G (COLQ)
ENST00000680897.1:n.1717C>G (COLQ)
ENST00000681097.1:c.*1266C>G (COLQ)	ENSP00000505397.1:n.*1266C>G
ENST00000681222.1:n.5743C>G (COLQ)
ENST00000383781.8:c.*884C>G (COLQ)	ENSP00000373291.3:n.*884C>G
ENST00000383788.9:c.*884C>G (COLQ)	ENSP00000373298.3:n.*884C>G
ENST00000603752.1:n.120C>G (COLQ)
NM_005677.3:c.*884C>G (COLQ)	NP_005668.2:n.*884C>G
NM_080538.2:c.*884C>G (COLQ)	NP_536799.1:n.*884C>G
NM_080539.3:c.*884C>G (COLQ)	NP_536800.2:n.*884C>G
NM_005677.4:c.*884C>G (COLQ) MANE Select	NP_005668.2:n.*884C>G
NM_080539.4:c.*884C>G (COLQ)	NP_536800.2:n.*884C>G