Canonical Allele Identifier: CA16044304

Gene: GABRD

Linked Data

• ClinVar Variation Id: 375540
• ClinVar RCV Id: RCV000417018 ; RCV000556057
• dbSNP Id: rs1057519556
• gnomAD v2: 1-1961470-G-A
• gnomAD v3: 1-2030031-G-A
• gnomAD v4: 1-2030031-G-A
• MyVariant Identifiers: chr1:g.1961470G>A (hg19) ; chr1:g.1961470_1961490delinsATCACGCAGGAGCTGGCCATC (hg19) ; chr1:g.2030031G>A (hg38) ; chr1:g.2030031_2030051delinsATCACGCAGGAGCTGGCCATC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2030031G>A , CM000663.2:g.2030031G>A	GRCh38
NC_000001.10:g.1961470G>A , CM000663.1:g.1961470G>A	GRCh37
NC_000001.9:g.1951330G>A	NCBI36
NG_008168.1:g.15703G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.1108G>A MANE Select	ENSP00000367848.4:p.Val370Ile
ENST00000638411.1:c.1139G>A	ENSP00000491632.1:p.Arg380His
ENST00000638604.1:n.1667G>A
ENST00000638771.1:c.1328G>A	ENSP00000492435.1:p.Arg443His
ENST00000639070.1:n.1687G>A
ENST00000639777.1:n.1712G>A
ENST00000640030.1:c.892G>A	ENSP00000491411.1:p.Val298Ile
ENST00000640067.1:c.1192G>A	ENSP00000491844.1:p.Val398Ile
ENST00000640317.1:n.1457G>A
ENST00000640423.1:n.1117G>A
ENST00000640688.1:n.609G>A
ENST00000640892.1:n.1775G>A
ENST00000640949.1:c.1039G>A	ENSP00000492500.1:p.Val347Ile
ENST00000378585.5:c.1108G>A	ENSP00000367848.4:p.Val370Ile
NM_000815.4:c.1108G>A	NP_000806.2:p.Val370Ile
XM_011541194.1:c.1147G>A	XP_011539496.1:p.Val383Ile
XM_011541194.3:c.1147G>A	XP_011539496.1:p.Val383Ile
XM_017000936.1:c.1813G>A	XP_016856425.1:p.Val605Ile
NM_000815.5:c.1108G>A MANE Select	NP_000806.2:p.Val370Ile