Canonical Allele Identifier: CA2906513
Gene: GABRG1 HGNC NCBI

Linked Data

dbSNP Id: rs749929382
ExAC: 4:46125971 C / G
gnomAD v2: 4-46125971-C-G
gnomAD v4: 4-46123954-C-G
MyVariant Identifiers: chr4:g.46125971C>G (hg19) chr4:g.46123954C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46123954C>G , CM000666.2:g.46123954C>G GRCh38
NC_000004.11:g.46125971C>G , CM000666.1:g.46125971C>G GRCh37
NC_000004.10:g.45820728C>G NCBI36
NG_046964.1:g.5112G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295452.5:c.-41G>C MANE Select ENSP00000295452.4:n.-41G>C
ENST00000295452.4:c.-41G>C ENSP00000295452.4:n.-41G>C
NM_173536.3:c.-41G>C NP_775807.2:n.-41G>C
NM_173536.4:c.-41G>C MANE Select NP_775807.2:n.-41G>C
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