Canonical Allele Identifier: CA2275800

Gene: EAF1-AS1 COLQ

Linked Data

• dbSNP Id: rs769202297
• ExAC: 3:15495287 G / A
• gnomAD v2: 3-15495287-G-A
• gnomAD v3: 3-15453780-G-A
• gnomAD v4: 3-15453780-G-A
• MyVariant Identifiers: chr3:g.15495287G>A (hg19) ; chr3:g.15453780G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15453780G>A , CM000665.2:g.15453780G>A	GRCh38
NC_000003.11:g.15495287G>A , CM000665.1:g.15495287G>A	GRCh37
NC_000003.10:g.15470291G>A	NCBI36
NG_009032.1:g.72972C>T
NG_009032.2:g.72972C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000608408.2:n.129+49C>T (EAF1-AS1)
ENST00000629729.3:c.145+49C>T	ENSP00000518887.1:n.145+49C>T
ENST00000383788.10:c.1298+49C>T (COLQ) MANE Select	ENSP00000373298.3:n.1298+49C>T
ENST00000604401.2:n.1154+49C>T (COLQ)
ENST00000679838.1:c.*1060+49C>T (COLQ)	ENSP00000505708.1:n.*1060+49C>T
ENST00000680240.1:n.1210+49C>T (COLQ)
ENST00000680545.1:n.1064+49C>T (COLQ)
ENST00000680897.1:n.763+49C>T (COLQ)
ENST00000681097.1:c.*312+49C>T (COLQ)	ENSP00000505397.1:n.*312+49C>T
ENST00000681222.1:n.4789+49C>T (COLQ)
ENST00000383781.8:c.1268+49C>T (COLQ)	ENSP00000373291.3:n.1268+49C>T
ENST00000383786.9:c.1196+49C>T (COLQ)	ENSP00000373296.3:n.1196+49C>T
ENST00000383788.9:c.1298+49C>T (COLQ)	ENSP00000373298.3:n.1298+49C>T
ENST00000603808.5:c.1301+49C>T (COLQ)	ENSP00000474271.1:n.1301+49C>T
NM_005677.3:c.1298+49C>T (COLQ)	NP_005668.2:n.1298+49C>T
NM_080538.2:c.1268+49C>T (COLQ)	NP_536799.1:n.1268+49C>T
NM_080539.3:c.1196+49C>T (COLQ)	NP_536800.2:n.1196+49C>T
NM_005677.4:c.1298+49C>T (COLQ) MANE Select	NP_005668.2:n.1298+49C>T
NM_080539.4:c.1196+49C>T (COLQ)	NP_536800.2:n.1196+49C>T