Canonical Allele Identifier: CA356811993
Gene: GABRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1396015
ClinVar RCV Id: RCV001919858
dbSNP Id: rs2110055196
MyVariant Identifiers: chr4:g.47408917A>G (hg19) chr4:g.47406900A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406900A>G , CM000666.2:g.47406900A>G GRCh38
NC_000004.11:g.47408917A>G , CM000666.1:g.47408917A>G GRCh37
NC_000004.10:g.47103674A>G NCBI36
NG_051831.1:g.380623A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1054A>G MANE Select ENSP00000295454.3:p.Asn352Asp
ENST00000295454.7:c.1054A>G ENSP00000295454.3:p.Asn352Asp
NM_000812.3:c.1054A>G NP_000803.2:p.Asn352Asp
XM_011513678.1:c.1033A>G XP_011511980.1:p.Asn345Asp
XM_017007985.1:c.403A>G XP_016863474.1:p.Asn135Asp
XM_024453976.1:c.955A>G XP_024309744.1:p.Asn319Asp
XM_024453977.1:c.955A>G XP_024309745.1:p.Asn319Asp
XM_024453978.1:c.955A>G XP_024309746.1:p.Asn319Asp
NM_000812.4:c.1054A>G MANE Select NP_000803.2:p.Asn352Asp
Search 100 bp 5'
Search 100 bp 3'