Canonical Allele Identifier: CA10617748

Gene: EAF1-AS1 COLQ

Linked Data

• ClinVar Variation Id: 343833
• ClinVar RCV Id: RCV000342933
• dbSNP Id: rs368981773
• gnomAD v2: 3-15492400-G-A
• gnomAD v3: 3-15450893-G-A
• gnomAD v4: 3-15450893-G-A
• MyVariant Identifiers: chr3:g.15492400G>A (hg19) ; chr3:g.15450893G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450893G>A , CM000665.2:g.15450893G>A	GRCh38
NC_000003.11:g.15492400G>A , CM000665.1:g.15492400G>A	GRCh37
NC_000003.10:g.15467404G>A	NCBI36
NG_009032.1:g.75859C>T
NG_009032.2:g.75859C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000608408.2:n.398+552C>T (EAF1-AS1)
ENST00000626521.1:n.55+552C>T (EAF1-AS1)
ENST00000629729.3:c.414+552C>T	ENSP00000518887.1:n.414+552C>T
ENST00000383788.10:c.*751C>T (COLQ) MANE Select	ENSP00000373298.3:n.*751C>T
ENST00000679838.1:c.*1881C>T (COLQ)	ENSP00000505708.1:n.*1881C>T
ENST00000680545.1:n.1885C>T (COLQ)
ENST00000680897.1:n.1584C>T (COLQ)
ENST00000681097.1:c.*1133C>T (COLQ)	ENSP00000505397.1:n.*1133C>T
ENST00000681222.1:n.5610C>T (COLQ)
ENST00000383781.8:c.*751C>T (COLQ)	ENSP00000373291.3:n.*751C>T
ENST00000383788.9:c.*751C>T (COLQ)	ENSP00000373298.3:n.*751C>T
NM_005677.3:c.*751C>T (COLQ)	NP_005668.2:n.*751C>T
NM_080538.2:c.*751C>T (COLQ)	NP_536799.1:n.*751C>T
NM_080539.3:c.*751C>T (COLQ)	NP_536800.2:n.*751C>T
NM_005677.4:c.*751C>T (COLQ) MANE Select	NP_005668.2:n.*751C>T
NM_080539.4:c.*751C>T (COLQ)	NP_536800.2:n.*751C>T