Canonical Allele Identifier: CA96628080

Gene: GABRA4

Linked Data

• dbSNP Id: rs1023200695
• gnomAD v3: 4-46971509-T-C
• gnomAD v4: 4-46971509-T-C
• MyVariant Identifiers: chr4:g.46973526T>C (hg19) ; chr4:g.46971509T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46971509T>C , CM000666.2:g.46971509T>C	GRCh38
NC_000004.11:g.46973526T>C , CM000666.1:g.46973526T>C	GRCh37
NC_000004.10:g.46668283T>C	NCBI36
NG_011809.1:g.27055A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264318.4:c.722-274A>G MANE Select	ENSP00000264318.3:n.722-274A>G
ENST00000264318.3:c.722-274A>G	ENSP00000264318.3:n.722-274A>G
ENST00000502874.1:c.*492-274A>G	ENSP00000424386.1:n.*492-274A>G
ENST00000508560.5:c.*543-274A>G	ENSP00000425445.1:n.*543-274A>G
ENST00000511523.5:c.*542+2723A>G	ENSP00000422152.1:n.*542+2723A>G
NM_000809.3:c.722-274A>G	NP_000800.2:n.722-274A>G
NM_001204266.1:c.665-274A>G	NP_001191195.1:n.665-274A>G
NM_001204267.1:c.664+2723A>G	NP_001191196.1:n.664+2723A>G
XM_011513677.1:c.721+2723A>G	XP_011511979.1:n.721+2723A>G
NM_000809.4:c.722-274A>G MANE Select	NP_000800.2:n.722-274A>G
NM_001204266.2:c.665-274A>G	NP_001191195.1:n.665-274A>G
NM_001204267.2:c.664+2723A>G	NP_001191196.1:n.664+2723A>G