Canonical Allele Identifier: CA439168685

Gene: GABRA4

Linked Data

• dbSNP Id: rs775415529
• gnomAD v2: 4-46995415-C-T
• gnomAD v3: 4-46993398-C-T
• gnomAD v4: 4-46993398-C-T
• MyVariant Identifiers: chr4:g.46995415C>T (hg19) ; chr4:g.46993398C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46993398C>T , CM000666.2:g.46993398C>T	GRCh38
NC_000004.11:g.46995415C>T , CM000666.1:g.46995415C>T	GRCh37
NC_000004.10:g.46690172C>T	NCBI36
NG_011809.1:g.5166G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264318.4:c.27G>A MANE Select	ENSP00000264318.3:p.Ala9=
ENST00000264318.3:c.27G>A	ENSP00000264318.3:p.Ala9=
ENST00000502874.1:c.27G>A	ENSP00000424386.1:p.Ala9=
ENST00000508560.5:c.18+9G>A	ENSP00000425445.1:n.18+9G>A
ENST00000509316.1:n.151G>A
ENST00000511523.5:c.18+9G>A	ENSP00000422152.1:n.18+9G>A
NM_000809.3:c.27G>A	NP_000800.2:p.Ala9=
NM_001204266.1:c.29+9G>A	NP_001191195.1:n.29+9G>A
NM_001204267.1:c.29+9G>A	NP_001191196.1:n.29+9G>A
XM_011513677.1:c.27G>A	XP_011511979.1:p.Ala9=
NM_000809.4:c.27G>A MANE Select	NP_000800.2:p.Ala9=
NM_001204266.2:c.29+9G>A	NP_001191195.1:n.29+9G>A
NM_001204267.2:c.29+9G>A	NP_001191196.1:n.29+9G>A