Canonical Allele Identifier: CA551159513
Gene: GABRA4 HGNC NCBI
GABRB1 HGNC NCBI

Linked Data

dbSNP Id: rs1350299053
gnomAD v2: 4-46995669-G-C
gnomAD v3: 4-46993652-G-C
gnomAD v4: 4-46993652-G-C
MyVariant Identifiers: chr4:g.46995669G>C (hg19) chr4:g.46993652G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46993652G>C , CM000666.2:g.46993652G>C GRCh38
NC_000004.11:g.46995669G>C , CM000666.1:g.46995669G>C GRCh37
NC_000004.10:g.46690426G>C NCBI36
NG_011809.1:g.4912C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.3:c.-228C>G (GABRA4) ENSP00000264318.3:n.-228C>G
NM_000809.3:c.-228C>G (GABRA4) NP_000800.2:n.-228C>G
XM_011513677.1:c.-228C>G (GABRA4) XP_011511979.1:n.-228C>G
XM_024453976.1:c.-328G>C (GABRB1) XP_024309744.1:n.-328G>C
XM_024453977.1:c.-366G>C (GABRB1) XP_024309745.1:n.-366G>C
Search 100 bp 5'
Search 100 bp 3'