Canonical Allele Identifier: CA551154227

Gene: GABRA4

Linked Data

• dbSNP Id: rs1483336401
• gnomAD v2: 4-46929708-G-C
• gnomAD v3: 4-46927691-G-C
• gnomAD v4: 4-46927691-G-C
• MyVariant Identifiers: chr4:g.46929708G>C (hg19) ; chr4:g.46927691G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46927691G>C , CM000666.2:g.46927691G>C	GRCh38
NC_000004.11:g.46929708G>C , CM000666.1:g.46929708G>C	GRCh37
NC_000004.10:g.46624465G>C	NCBI36
NG_011809.1:g.70873C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264318.4:c.*534C>G MANE Select	ENSP00000264318.3:n.*534C>G
ENST00000264318.3:c.*534C>G	ENSP00000264318.3:n.*534C>G
NM_000809.3:c.*534C>G	NP_000800.2:n.*534C>G
NM_001204266.1:c.*534C>G	NP_001191195.1:n.*534C>G
NM_001204267.1:c.*534C>G	NP_001191196.1:n.*534C>G
XM_011513677.1:c.*534C>G	XP_011511979.1:n.*534C>G
NM_000809.4:c.*534C>G MANE Select	NP_000800.2:n.*534C>G
NM_001204266.2:c.*534C>G	NP_001191195.1:n.*534C>G
NM_001204267.2:c.*534C>G	NP_001191196.1:n.*534C>G