Canonical Allele Identifier: CA97019095
Gene: GABRG1 HGNC NCBI

Linked Data

dbSNP Id: rs189509236
gnomAD v2: 4-46087772-C-T
gnomAD v3: 4-46085755-C-T
gnomAD v4: 4-46085755-C-T
MyVariant Identifiers: chr4:g.46087772C>T (hg19) chr4:g.46085755C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46085755C>T , CM000666.2:g.46085755C>T GRCh38
NC_000004.11:g.46087772C>T , CM000666.1:g.46087772C>T GRCh37
NC_000004.10:g.45782529C>T NCBI36
NG_046964.1:g.43311G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295452.5:c.254-1702G>A MANE Select ENSP00000295452.4:n.254-1702G>A
ENST00000295452.4:c.254-1702G>A ENSP00000295452.4:n.254-1702G>A
NM_173536.3:c.254-1702G>A NP_775807.2:n.254-1702G>A
NM_173536.4:c.254-1702G>A MANE Select NP_775807.2:n.254-1702G>A
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