Canonical Allele Identifier: CA10617745

Gene: EAF1-AS1 COLQ

Linked Data

• ClinVar Variation Id: 343832
• ClinVar RCV Id: RCV000285668
• dbSNP Id: rs550045499
• gnomAD v2: 3-15492303-G-A
• gnomAD v3: 3-15450796-G-A
• gnomAD v4: 3-15450796-G-A
• MyVariant Identifiers: chr3:g.15492303G>A (hg19) ; chr3:g.15450796G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450796G>A , CM000665.2:g.15450796G>A	GRCh38
NC_000003.11:g.15492303G>A , CM000665.1:g.15492303G>A	GRCh37
NC_000003.10:g.15467307G>A	NCBI36
NG_009032.1:g.75956C>T
NG_009032.2:g.75956C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+649C>T (EAF1-AS1)
ENST00000626521.1:n.55+649C>T (EAF1-AS1)
ENST00000629729.3:c.414+649C>T	ENSP00000518887.1:n.414+649C>T
ENST00000383788.10:c.*848C>T (COLQ) MANE Select	ENSP00000373298.3:n.*848C>T
ENST00000679838.1:c.*1978C>T (COLQ)	ENSP00000505708.1:n.*1978C>T
ENST00000680545.1:n.1982C>T (COLQ)
ENST00000680897.1:n.1681C>T (COLQ)
ENST00000681097.1:c.*1230C>T (COLQ)	ENSP00000505397.1:n.*1230C>T
ENST00000681222.1:n.5707C>T (COLQ)
ENST00000383781.8:c.*848C>T (COLQ)	ENSP00000373291.3:n.*848C>T
ENST00000383788.9:c.*848C>T (COLQ)	ENSP00000373298.3:n.*848C>T
ENST00000603752.1:n.84C>T (COLQ)
NM_005677.3:c.*848C>T (COLQ)	NP_005668.2:n.*848C>T
NM_080538.2:c.*848C>T (COLQ)	NP_536799.1:n.*848C>T
NM_080539.3:c.*848C>T (COLQ)	NP_536800.2:n.*848C>T
NM_005677.4:c.*848C>T (COLQ) MANE Select	NP_005668.2:n.*848C>T
NM_080539.4:c.*848C>T (COLQ)	NP_536800.2:n.*848C>T