Canonical Allele Identifier: CA2907725
Gene: GABRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 713906
ClinVar RCV Id: RCV000886127
dbSNP Id: rs150598937
ExAC: 4:47408896 G / A
gnomAD v2: 4-47408896-G-A
gnomAD v3: 4-47406879-G-A
gnomAD v4: 4-47406879-G-A
MyVariant Identifiers: chr4:g.47408896G>A (hg19) chr4:g.47406879G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406879G>A , CM000666.2:g.47406879G>A GRCh38
NC_000004.11:g.47408896G>A , CM000666.1:g.47408896G>A GRCh37
NC_000004.10:g.47103653G>A NCBI36
NG_051831.1:g.380602G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1033G>A MANE Select ENSP00000295454.3:p.Asp345Asn
ENST00000295454.7:c.1033G>A ENSP00000295454.3:p.Asp345Asn
NM_000812.3:c.1033G>A NP_000803.2:p.Asp345Asn
XM_011513678.1:c.1012G>A XP_011511980.1:p.Asp338Asn
XM_017007985.1:c.382G>A XP_016863474.1:p.Asp128Asn
XM_024453976.1:c.934G>A XP_024309744.1:p.Asp312Asn
XM_024453977.1:c.934G>A XP_024309745.1:p.Asp312Asn
XM_024453978.1:c.934G>A XP_024309746.1:p.Asp312Asn
NM_000812.4:c.1033G>A MANE Select NP_000803.2:p.Asp345Asn
Search 100 bp 5'
Search 100 bp 3'