Canonical Allele Identifier: CA795349415
Gene: GABRG1 HGNC NCBI

Linked Data

dbSNP Id: rs1198303558
gnomAD v3: 4-46085749-A-G
gnomAD v4: 4-46085749-A-G
MyVariant Identifiers: chr4:g.46087766A>G (hg19) chr4:g.46085749A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46085749A>G , CM000666.2:g.46085749A>G GRCh38
NC_000004.11:g.46087766A>G , CM000666.1:g.46087766A>G GRCh37
NC_000004.10:g.45782523A>G NCBI36
NG_046964.1:g.43317T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295452.5:c.254-1696T>C MANE Select ENSP00000295452.4:n.254-1696T>C
ENST00000295452.4:c.254-1696T>C ENSP00000295452.4:n.254-1696T>C
NM_173536.3:c.254-1696T>C NP_775807.2:n.254-1696T>C
NM_173536.4:c.254-1696T>C MANE Select NP_775807.2:n.254-1696T>C
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