Canonical Allele Identifier: CA97019097
Gene: GABRG1 HGNC NCBI

Linked Data

dbSNP Id: rs867254961
gnomAD v2: 4-46087776-T-C
gnomAD v3: 4-46085759-T-C
gnomAD v4: 4-46085759-T-C
MyVariant Identifiers: chr4:g.46087776T>C (hg19) chr4:g.46085759T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46085759T>C , CM000666.2:g.46085759T>C GRCh38
NC_000004.11:g.46087776T>C , CM000666.1:g.46087776T>C GRCh37
NC_000004.10:g.45782533T>C NCBI36
NG_046964.1:g.43307A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295452.5:c.254-1706A>G MANE Select ENSP00000295452.4:n.254-1706A>G
ENST00000295452.4:c.254-1706A>G ENSP00000295452.4:n.254-1706A>G
NM_173536.3:c.254-1706A>G NP_775807.2:n.254-1706A>G
NM_173536.4:c.254-1706A>G MANE Select NP_775807.2:n.254-1706A>G
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