Canonical Allele Identifier: CA541360318

Gene: EAF1-AS1 COLQ

Linked Data

• dbSNP Id: rs1383048184
• gnomAD v2: 3-15492374-G-A
• gnomAD v3: 3-15450867-G-A
• gnomAD v4: 3-15450867-G-A
• MyVariant Identifiers: chr3:g.15492374G>A (hg19) ; chr3:g.15450867G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450867G>A , CM000665.2:g.15450867G>A	GRCh38
NC_000003.11:g.15492374G>A , CM000665.1:g.15492374G>A	GRCh37
NC_000003.10:g.15467378G>A	NCBI36
NG_009032.1:g.75885C>T
NG_009032.2:g.75885C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+578C>T (EAF1-AS1)
ENST00000626521.1:n.55+578C>T (EAF1-AS1)
ENST00000629729.3:c.414+578C>T	ENSP00000518887.1:n.414+578C>T
ENST00000383788.10:c.*777C>T (COLQ) MANE Select	ENSP00000373298.3:n.*777C>T
ENST00000679838.1:c.*1907C>T (COLQ)	ENSP00000505708.1:n.*1907C>T
ENST00000680545.1:n.1911C>T (COLQ)
ENST00000680897.1:n.1610C>T (COLQ)
ENST00000681097.1:c.*1159C>T (COLQ)	ENSP00000505397.1:n.*1159C>T
ENST00000681222.1:n.5636C>T (COLQ)
ENST00000383781.8:c.*777C>T (COLQ)	ENSP00000373291.3:n.*777C>T
ENST00000383788.9:c.*777C>T (COLQ)	ENSP00000373298.3:n.*777C>T
ENST00000603752.1:n.13C>T (COLQ)
NM_005677.3:c.*777C>T (COLQ)	NP_005668.2:n.*777C>T
NM_080538.2:c.*777C>T (COLQ)	NP_536799.1:n.*777C>T
NM_080539.3:c.*777C>T (COLQ)	NP_536800.2:n.*777C>T
NM_005677.4:c.*777C>T (COLQ) MANE Select	NP_005668.2:n.*777C>T
NM_080539.4:c.*777C>T (COLQ)	NP_536800.2:n.*777C>T