Canonical Allele Identifier: CA2275764

Gene: EAF1-AS1 COLQ

Linked Data

• ClinVar Variation Id: 343845
• ClinVar RCV Id: RCV000372222
• dbSNP Id: rs754063500
• ExAC: 3:15493147 G / A
• gnomAD v2: 3-15493147-G-A
• gnomAD v4: 3-15451640-G-A
• MyVariant Identifiers: chr3:g.15493147G>A (hg19) ; chr3:g.15451640G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15451640G>A , CM000665.2:g.15451640G>A	GRCh38
NC_000003.11:g.15493147G>A , CM000665.1:g.15493147G>A	GRCh37
NC_000003.10:g.15468151G>A	NCBI36
NG_009032.1:g.75112C>T
NG_009032.2:g.75112C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.203C>T (EAF1-AS1)
ENST00000629729.3:c.219C>T	ENSP00000518887.1:n.219C>T
ENST00000383788.10:c.*4C>T (COLQ) MANE Select	ENSP00000373298.3:n.*4C>T
ENST00000604401.2:n.1228C>T (COLQ)
ENST00000679838.1:c.*1134C>T (COLQ)	ENSP00000505708.1:n.*1134C>T
ENST00000680240.1:n.1284C>T (COLQ)
ENST00000680545.1:n.1138C>T (COLQ)
ENST00000680897.1:n.837C>T (COLQ)
ENST00000681097.1:c.*386C>T (COLQ)	ENSP00000505397.1:n.*386C>T
ENST00000681222.1:n.4863C>T (COLQ)
ENST00000383781.8:c.*4C>T (COLQ)	ENSP00000373291.3:n.*4C>T
ENST00000383786.9:c.*4C>T (COLQ)	ENSP00000373296.3:n.*4C>T
ENST00000383788.9:c.*4C>T (COLQ)	ENSP00000373298.3:n.*4C>T
ENST00000603808.5:c.*4C>T (COLQ)	ENSP00000474271.1:n.*4C>T
NM_005677.3:c.*4C>T (COLQ)	NP_005668.2:n.*4C>T
NM_080538.2:c.*4C>T (COLQ)	NP_536799.1:n.*4C>T
NM_080539.3:c.*4C>T (COLQ)	NP_536800.2:n.*4C>T
NM_005677.4:c.*4C>T (COLQ) MANE Select	NP_005668.2:n.*4C>T
NM_080539.4:c.*4C>T (COLQ)	NP_536800.2:n.*4C>T