Canonical Allele Identifier: CA97302427
Gene: GABRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2828292
ClinVar RCV Id: RCV003685944
dbSNP Id: rs951653630
gnomAD v3: 4-47406939-A-G
gnomAD v4: 4-47406939-A-G
MyVariant Identifiers: chr4:g.47408956A>G (hg19) chr4:g.47406939A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406939A>G , CM000666.2:g.47406939A>G GRCh38
NC_000004.11:g.47408956A>G , CM000666.1:g.47408956A>G GRCh37
NC_000004.10:g.47103713A>G NCBI36
NG_051831.1:g.380662A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1080+13A>G MANE Select ENSP00000295454.3:n.1080+13A>G
ENST00000295454.7:c.1080+13A>G ENSP00000295454.3:n.1080+13A>G
NM_000812.3:c.1080+13A>G NP_000803.2:n.1080+13A>G
XM_011513678.1:c.1059+13A>G XP_011511980.1:n.1059+13A>G
XM_017007985.1:c.429+13A>G XP_016863474.1:n.429+13A>G
XM_024453976.1:c.981+13A>G XP_024309744.1:n.981+13A>G
XM_024453977.1:c.981+13A>G XP_024309745.1:n.981+13A>G
XM_024453978.1:c.981+13A>G XP_024309746.1:n.981+13A>G
NM_000812.4:c.1080+13A>G MANE Select NP_000803.2:n.1080+13A>G
Search 100 bp 5'
Search 100 bp 3'