Canonical Allele Identifier: CA2664660646

Gene: EAF1-AS1 COLQ

Linked Data

• gnomAD v4: 3-15453777-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15453777G>T , CM000665.2:g.15453777G>T	GRCh38
NC_000003.11:g.15495284G>T , CM000665.1:g.15495284G>T	GRCh37
NC_000003.10:g.15470288G>T	NCBI36
NG_009032.1:g.72975C>A
NG_009032.2:g.72975C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000608408.2:n.129+52C>A (EAF1-AS1)
ENST00000629729.3:c.145+52C>A	ENSP00000518887.1:n.145+52C>A
ENST00000383788.10:c.1298+52C>A (COLQ) MANE Select	ENSP00000373298.3:n.1298+52C>A
ENST00000604401.2:n.1154+52C>A (COLQ)
ENST00000679838.1:c.*1060+52C>A (COLQ)	ENSP00000505708.1:n.*1060+52C>A
ENST00000680240.1:n.1210+52C>A (COLQ)
ENST00000680545.1:n.1064+52C>A (COLQ)
ENST00000680897.1:n.763+52C>A (COLQ)
ENST00000681097.1:c.*312+52C>A (COLQ)	ENSP00000505397.1:n.*312+52C>A
ENST00000681222.1:n.4789+52C>A (COLQ)
ENST00000383781.8:c.1268+52C>A (COLQ)	ENSP00000373291.3:n.1268+52C>A
ENST00000383786.9:c.1196+52C>A (COLQ)	ENSP00000373296.3:n.1196+52C>A
ENST00000383788.9:c.1298+52C>A (COLQ)	ENSP00000373298.3:n.1298+52C>A
ENST00000603808.5:c.1301+52C>A (COLQ)	ENSP00000474271.1:n.1301+52C>A
NM_005677.3:c.1298+52C>A (COLQ)	NP_005668.2:n.1298+52C>A
NM_080538.2:c.1268+52C>A (COLQ)	NP_536799.1:n.1268+52C>A
NM_080539.3:c.1196+52C>A (COLQ)	NP_536800.2:n.1196+52C>A
NM_005677.4:c.1298+52C>A (COLQ) MANE Select	NP_005668.2:n.1298+52C>A
NM_080539.4:c.1196+52C>A (COLQ)	NP_536800.2:n.1196+52C>A