Canonical Allele Identifier: CA356778020

Gene: GABRA4

Linked Data

• gnomAD v4: 4-46993409-T-G
• MyVariant Identifiers: chr4:g.46995426T>G (hg19) ; chr4:g.46993409T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46993409T>G , CM000666.2:g.46993409T>G	GRCh38
NC_000004.11:g.46995426T>G , CM000666.1:g.46995426T>G	GRCh37
NC_000004.10:g.46690183T>G	NCBI36
NG_011809.1:g.5155A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264318.4:c.16A>C MANE Select	ENSP00000264318.3:p.Lys6Gln
ENST00000264318.3:c.16A>C	ENSP00000264318.3:p.Lys6Gln
ENST00000502874.1:c.16A>C	ENSP00000424386.1:p.Lys6Gln
ENST00000508560.5:c.16A>C	ENSP00000425445.1:p.Lys6Gln
ENST00000509316.1:n.140A>C
ENST00000511523.5:c.16A>C	ENSP00000422152.1:p.Lys6Gln
NM_000809.3:c.16A>C	NP_000800.2:p.Lys6Gln
NM_001204266.1:c.27A>C	NP_001191195.1:p.Arg9Ser
NM_001204267.1:c.27A>C	NP_001191196.1:p.Arg9Ser
XM_011513677.1:c.16A>C	XP_011511979.1:p.Lys6Gln
NM_000809.4:c.16A>C MANE Select	NP_000800.2:p.Lys6Gln
NM_001204266.2:c.27A>C	NP_001191195.1:p.Arg9Ser
NM_001204267.2:c.27A>C	NP_001191196.1:p.Arg9Ser