Canonical Allele Identifier: CA2907700
Gene: GABRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1652676
ClinVar RCV Id: RCV002154557
dbSNP Id: rs545362380
ExAC: 4:47408679 G / A
gnomAD v2: 4-47408679-G-A
gnomAD v3: 4-47406662-G-A
gnomAD v4: 4-47406662-G-A
MyVariant Identifiers: chr4:g.47408679G>A (hg19) chr4:g.47406662G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406662G>A , CM000666.2:g.47406662G>A GRCh38
NC_000004.11:g.47408679G>A , CM000666.1:g.47408679G>A GRCh37
NC_000004.10:g.47103436G>A NCBI36
NG_051831.1:g.380385G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.836-20G>A MANE Select ENSP00000295454.3:n.836-20G>A
ENST00000295454.7:c.836-20G>A ENSP00000295454.3:n.836-20G>A
NM_000812.3:c.836-20G>A NP_000803.2:n.836-20G>A
XM_011513678.1:c.815-20G>A XP_011511980.1:n.815-20G>A
XM_017007985.1:c.185-20G>A XP_016863474.1:n.185-20G>A
XM_024453976.1:c.737-20G>A XP_024309744.1:n.737-20G>A
XM_024453977.1:c.737-20G>A XP_024309745.1:n.737-20G>A
XM_024453978.1:c.737-20G>A XP_024309746.1:n.737-20G>A
NM_000812.4:c.836-20G>A MANE Select NP_000803.2:n.836-20G>A
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