Canonical Allele Identifier: CA10615093

Gene: EAF1-AS1 COLQ

Linked Data

• ClinVar Variation Id: 343836
• ClinVar RCV Id: RCV000346268
• dbSNP Id: rs116231717
• gnomAD v2: 3-15492659-C-T
• gnomAD v3: 3-15451152-C-T
• gnomAD v4: 3-15451152-C-T
• MyVariant Identifiers: chr3:g.15492659C>T (hg19) ; chr3:g.15451152C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15451152C>T , CM000665.2:g.15451152C>T	GRCh38
NC_000003.11:g.15492659C>T , CM000665.1:g.15492659C>T	GRCh37
NC_000003.10:g.15467663C>T	NCBI36
NG_009032.1:g.75600G>A
NG_009032.2:g.75600G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+293G>A (EAF1-AS1)
ENST00000626521.1:n.55+293G>A (EAF1-AS1)
ENST00000629729.3:c.414+293G>A	ENSP00000518887.1:n.414+293G>A
ENST00000383788.10:c.*492G>A (COLQ) MANE Select	ENSP00000373298.3:n.*492G>A
ENST00000604401.2:n.1716G>A (COLQ)
ENST00000679838.1:c.*1622G>A (COLQ)	ENSP00000505708.1:n.*1622G>A
ENST00000680545.1:n.1626G>A (COLQ)
ENST00000680897.1:n.1325G>A (COLQ)
ENST00000681097.1:c.*874G>A (COLQ)	ENSP00000505397.1:n.*874G>A
ENST00000681222.1:n.5351G>A (COLQ)
ENST00000383781.8:c.*492G>A (COLQ)	ENSP00000373291.3:n.*492G>A
ENST00000383788.9:c.*492G>A (COLQ)	ENSP00000373298.3:n.*492G>A
NM_005677.3:c.*492G>A (COLQ)	NP_005668.2:n.*492G>A
NM_080538.2:c.*492G>A (COLQ)	NP_536799.1:n.*492G>A
NM_080539.3:c.*492G>A (COLQ)	NP_536800.2:n.*492G>A
NM_005677.4:c.*492G>A (COLQ) MANE Select	NP_005668.2:n.*492G>A
NM_080539.4:c.*492G>A (COLQ)	NP_536800.2:n.*492G>A