Canonical Allele Identifier: CA2907347

Gene: GABRA4

Linked Data

• dbSNP Id: rs754701273
• ExAC: 4:46995384 G / A
• gnomAD v2: 4-46995384-G-A
• gnomAD v3: 4-46993367-G-A
• gnomAD v4: 4-46993367-G-A
• MyVariant Identifiers: chr4:g.46995384G>A (hg19) ; chr4:g.46993367G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46993367G>A , CM000666.2:g.46993367G>A	GRCh38
NC_000004.11:g.46995384G>A , CM000666.1:g.46995384G>A	GRCh37
NC_000004.10:g.46690141G>A	NCBI36
NG_011809.1:g.5197C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264318.4:c.58C>T MANE Select	ENSP00000264318.3:p.Leu20Phe
ENST00000264318.3:c.58C>T	ENSP00000264318.3:p.Leu20Phe
ENST00000502874.1:c.58C>T	ENSP00000424386.1:p.Leu20Phe
ENST00000508560.5:c.18+40C>T	ENSP00000425445.1:n.18+40C>T
ENST00000509316.1:n.182C>T
ENST00000511523.5:c.18+40C>T	ENSP00000422152.1:n.18+40C>T
NM_000809.3:c.58C>T	NP_000800.2:p.Leu20Phe
NM_001204266.1:c.29+40C>T	NP_001191195.1:n.29+40C>T
NM_001204267.1:c.29+40C>T	NP_001191196.1:n.29+40C>T
XM_011513677.1:c.58C>T	XP_011511979.1:p.Leu20Phe
NM_000809.4:c.58C>T MANE Select	NP_000800.2:p.Leu20Phe
NM_001204266.2:c.29+40C>T	NP_001191195.1:n.29+40C>T
NM_001204267.2:c.29+40C>T	NP_001191196.1:n.29+40C>T