Canonical Allele Identifier: CA2907706
Gene: GABRB1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.47406692A>T
GRCh37 chr4:g.47408709A>T
gnomAD v2:
4:47408709 A / T
gnomAD v3:
4:47406692 A / T
gnomAD v4:
chr4-47406692-A-T
Joint Max Group AF 0.00000878 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.0000081 (NFE)
ClinVar RCV:
RCV003875804
ClinVar Variation:
3014165
dbSNP:
6289
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406692A>T , CM000666.2:g.47406692A>T GRCh38
NC_000004.11:g.47408709A>T , CM000666.1:g.47408709A>T GRCh37
NC_000004.10:g.47103466A>T NCBI36
NG_051831.1:g.380415A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.846A>T MANE Select ENSP00000295454.3:p.Thr282=
ENST00000295454.7:c.846A>T ENSP00000295454.3:p.Thr282=
NM_000812.3:c.846A>T NP_000803.2:p.Thr282=
XM_011513678.1:c.825A>T XP_011511980.1:p.Thr275=
XM_017007985.1:c.195A>T XP_016863474.1:p.Thr65=
XM_024453976.1:c.747A>T XP_024309744.1:p.Thr249=
XM_024453977.1:c.747A>T XP_024309745.1:p.Thr249=
XM_024453978.1:c.747A>T XP_024309746.1:p.Thr249=
NM_000812.4:c.846A>T MANE Select NP_000803.2:p.Thr282=
Search 100 bp 5'
Search 100 bp 3'