Canonical Allele Identifier: CA2581418561
Gene: GABRA4 HGNC NCBI
GABRB1 HGNC NCBI

Linked Data

gnomAD v4: 4-46993618-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46993618C>G , CM000666.2:g.46993618C>G GRCh38
NC_000004.11:g.46995635C>G , CM000666.1:g.46995635C>G GRCh37
NC_000004.10:g.46690392C>G NCBI36
NG_011809.1:g.4946G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.3:c.-194G>C (GABRA4) ENSP00000264318.3:n.-194G>C
NM_000809.3:c.-194G>C (GABRA4) NP_000800.2:n.-194G>C
XM_011513677.1:c.-194G>C (GABRA4) XP_011511979.1:n.-194G>C
XM_024453977.1:c.-400C>G (GABRB1) XP_024309745.1:n.-400C>G
Search 100 bp 5'
Search 100 bp 3'