Canonical Allele Identifier: CA11809879

Gene: GABRA4

Linked Data

• dbSNP Id: rs2280072
• gnomAD v2: 4-46995170-G-C
• gnomAD v3: 4-46993153-G-C
• gnomAD v4: 4-46993153-G-C
• MyVariant Identifiers: chr4:g.46995170G>C (hg19) ; chr4:g.46993153G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46993153G>C , CM000666.2:g.46993153G>C	GRCh38
NC_000004.11:g.46995170G>C , CM000666.1:g.46995170G>C	GRCh37
NC_000004.10:g.46689927G>C	NCBI36
NG_011809.1:g.5411C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264318.4:c.86+186C>G MANE Select	ENSP00000264318.3:n.86+186C>G
ENST00000264318.3:c.86+186C>G	ENSP00000264318.3:n.86+186C>G
ENST00000502874.1:c.86+186C>G	ENSP00000424386.1:n.86+186C>G
ENST00000508560.5:c.19-207C>G	ENSP00000425445.1:n.19-207C>G
ENST00000509316.1:n.210+186C>G
ENST00000511523.5:c.19-207C>G	ENSP00000422152.1:n.19-207C>G
NM_000809.3:c.86+186C>G	NP_000800.2:n.86+186C>G
NM_001204266.1:c.30-207C>G	NP_001191195.1:n.30-207C>G
NM_001204267.1:c.30-207C>G	NP_001191196.1:n.30-207C>G
XM_011513677.1:c.86+186C>G	XP_011511979.1:n.86+186C>G
NM_000809.4:c.86+186C>G MANE Select	NP_000800.2:n.86+186C>G
NM_001204266.2:c.30-207C>G	NP_001191195.1:n.30-207C>G
NM_001204267.2:c.30-207C>G	NP_001191196.1:n.30-207C>G