Canonical Allele Identifier: CA10617521

Gene: EAF1-AS1 COLQ

Linked Data

• ClinVar Variation Id: 343828
• ClinVar RCV Id: RCV000373779
• dbSNP Id: rs3846128
• gnomAD v2: 3-15492150-C-T
• gnomAD v3: 3-15450643-C-T
• gnomAD v4: 3-15450643-C-T
• MyVariant Identifiers: chr3:g.15492150C>T (hg19) ; chr3:g.15450643C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450643C>T , CM000665.2:g.15450643C>T	GRCh38
NC_000003.11:g.15492150C>T , CM000665.1:g.15492150C>T	GRCh37
NC_000003.10:g.15467154C>T	NCBI36
NG_009032.1:g.76109G>A
NG_009032.2:g.76109G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000608408.2:n.398+802G>A (EAF1-AS1)
ENST00000626521.1:n.55+802G>A (EAF1-AS1)
ENST00000629729.3:c.414+802G>A	ENSP00000518887.1:n.414+802G>A
ENST00000383788.10:c.*1001G>A (COLQ) MANE Select	ENSP00000373298.3:n.*1001G>A
ENST00000679838.1:c.*2131G>A (COLQ)	ENSP00000505708.1:n.*2131G>A
ENST00000680545.1:n.2135G>A (COLQ)
ENST00000680897.1:n.1834G>A (COLQ)
ENST00000681097.1:c.*1383G>A (COLQ)	ENSP00000505397.1:n.*1383G>A
ENST00000681222.1:n.5860G>A (COLQ)
ENST00000383781.8:c.*1001G>A (COLQ)	ENSP00000373291.3:n.*1001G>A
ENST00000383788.9:c.*1001G>A (COLQ)	ENSP00000373298.3:n.*1001G>A
ENST00000603752.1:n.237G>A (COLQ)
NM_005677.3:c.*1001G>A (COLQ)	NP_005668.2:n.*1001G>A
NM_080538.2:c.*1001G>A (COLQ)	NP_536799.1:n.*1001G>A
NM_080539.3:c.*1001G>A (COLQ)	NP_536800.2:n.*1001G>A
NM_005677.4:c.*1001G>A (COLQ) MANE Select	NP_005668.2:n.*1001G>A
NM_080539.4:c.*1001G>A (COLQ)	NP_536800.2:n.*1001G>A