Canonical Allele Identifier: CA2664660099

Gene: EAF1-AS1 COLQ

Linked Data

• gnomAD v4: 3-15451214-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15451214T>A , CM000665.2:g.15451214T>A	GRCh38
NC_000003.11:g.15492721T>A , CM000665.1:g.15492721T>A	GRCh37
NC_000003.10:g.15467725T>A	NCBI36
NG_009032.1:g.75538A>T
NG_009032.2:g.75538A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+231A>T (EAF1-AS1)
ENST00000626521.1:n.55+231A>T (EAF1-AS1)
ENST00000629729.3:c.414+231A>T	ENSP00000518887.1:n.414+231A>T
ENST00000383788.10:c.*430A>T (COLQ) MANE Select	ENSP00000373298.3:n.*430A>T
ENST00000604401.2:n.1654A>T (COLQ)
ENST00000679838.1:c.*1560A>T (COLQ)	ENSP00000505708.1:n.*1560A>T
ENST00000680545.1:n.1564A>T (COLQ)
ENST00000680897.1:n.1263A>T (COLQ)
ENST00000681097.1:c.*812A>T (COLQ)	ENSP00000505397.1:n.*812A>T
ENST00000681222.1:n.5289A>T (COLQ)
ENST00000383781.8:c.*430A>T (COLQ)	ENSP00000373291.3:n.*430A>T
ENST00000383788.9:c.*430A>T (COLQ)	ENSP00000373298.3:n.*430A>T
NM_005677.3:c.*430A>T (COLQ)	NP_005668.2:n.*430A>T
NM_080538.2:c.*430A>T (COLQ)	NP_536799.1:n.*430A>T
NM_080539.3:c.*430A>T (COLQ)	NP_536800.2:n.*430A>T
NM_005677.4:c.*430A>T (COLQ) MANE Select	NP_005668.2:n.*430A>T
NM_080539.4:c.*430A>T (COLQ)	NP_536800.2:n.*430A>T