Canonical Allele Identifier: CA900927160

Gene: EAF1-AS1 COLQ

Linked Data

• dbSNP Id: rs1428447099
• gnomAD v4: 3-15450878-C-A
• MyVariant Identifiers: chr3:g.15492385C>A (hg19) ; chr3:g.15450878C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450878C>A , CM000665.2:g.15450878C>A	GRCh38
NC_000003.11:g.15492385C>A , CM000665.1:g.15492385C>A	GRCh37
NC_000003.10:g.15467389C>A	NCBI36
NG_009032.1:g.75874G>T
NG_009032.2:g.75874G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+567G>T (EAF1-AS1)
ENST00000626521.1:n.55+567G>T (EAF1-AS1)
ENST00000629729.3:c.414+567G>T	ENSP00000518887.1:n.414+567G>T
ENST00000383788.10:c.*766G>T (COLQ) MANE Select	ENSP00000373298.3:n.*766G>T
ENST00000679838.1:c.*1896G>T (COLQ)	ENSP00000505708.1:n.*1896G>T
ENST00000680545.1:n.1900G>T (COLQ)
ENST00000680897.1:n.1599G>T (COLQ)
ENST00000681097.1:c.*1148G>T (COLQ)	ENSP00000505397.1:n.*1148G>T
ENST00000681222.1:n.5625G>T (COLQ)
ENST00000383781.8:c.*766G>T (COLQ)	ENSP00000373291.3:n.*766G>T
ENST00000383788.9:c.*766G>T (COLQ)	ENSP00000373298.3:n.*766G>T
ENST00000603752.1:n.2G>T (COLQ)
NM_005677.3:c.*766G>T (COLQ)	NP_005668.2:n.*766G>T
NM_080538.2:c.*766G>T (COLQ)	NP_536799.1:n.*766G>T
NM_080539.3:c.*766G>T (COLQ)	NP_536800.2:n.*766G>T
NM_005677.4:c.*766G>T (COLQ) MANE Select	NP_005668.2:n.*766G>T
NM_080539.4:c.*766G>T (COLQ)	NP_536800.2:n.*766G>T