Canonical Allele Identifier: CA70599040

Gene: EAF1-AS1 COLQ

Linked Data

• dbSNP Id: rs903479193
• gnomAD v3: 3-15450854-G-A
• gnomAD v4: 3-15450854-G-A
• MyVariant Identifiers: chr3:g.15492361G>A (hg19) ; chr3:g.15450854G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450854G>A , CM000665.2:g.15450854G>A	GRCh38
NC_000003.11:g.15492361G>A , CM000665.1:g.15492361G>A	GRCh37
NC_000003.10:g.15467365G>A	NCBI36
NG_009032.1:g.75898C>T
NG_009032.2:g.75898C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+591C>T (EAF1-AS1)
ENST00000626521.1:n.55+591C>T (EAF1-AS1)
ENST00000629729.3:c.414+591C>T	ENSP00000518887.1:n.414+591C>T
ENST00000383788.10:c.*790C>T (COLQ) MANE Select	ENSP00000373298.3:n.*790C>T
ENST00000679838.1:c.*1920C>T (COLQ)	ENSP00000505708.1:n.*1920C>T
ENST00000680545.1:n.1924C>T (COLQ)
ENST00000680897.1:n.1623C>T (COLQ)
ENST00000681097.1:c.*1172C>T (COLQ)	ENSP00000505397.1:n.*1172C>T
ENST00000681222.1:n.5649C>T (COLQ)
ENST00000383781.8:c.*790C>T (COLQ)	ENSP00000373291.3:n.*790C>T
ENST00000383788.9:c.*790C>T (COLQ)	ENSP00000373298.3:n.*790C>T
ENST00000603752.1:n.26C>T (COLQ)
NM_005677.3:c.*790C>T (COLQ)	NP_005668.2:n.*790C>T
NM_080538.2:c.*790C>T (COLQ)	NP_536799.1:n.*790C>T
NM_080539.3:c.*790C>T (COLQ)	NP_536800.2:n.*790C>T
NM_005677.4:c.*790C>T (COLQ) MANE Select	NP_005668.2:n.*790C>T
NM_080539.4:c.*790C>T (COLQ)	NP_536800.2:n.*790C>T