Canonical Allele Identifier: CA795432132

Gene: GABRA4

Linked Data

• dbSNP Id: rs1472413605
• gnomAD v3: 4-46971448-A-G
• gnomAD v4: 4-46971448-A-G
• MyVariant Identifiers: chr4:g.46973465A>G (hg19) ; chr4:g.46971448A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46971448A>G , CM000666.2:g.46971448A>G	GRCh38
NC_000004.11:g.46973465A>G , CM000666.1:g.46973465A>G	GRCh37
NC_000004.10:g.46668222A>G	NCBI36
NG_011809.1:g.27116T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264318.4:c.722-213T>C MANE Select	ENSP00000264318.3:n.722-213T>C
ENST00000264318.3:c.722-213T>C	ENSP00000264318.3:n.722-213T>C
ENST00000502874.1:c.*492-213T>C	ENSP00000424386.1:n.*492-213T>C
ENST00000508560.5:c.*543-213T>C	ENSP00000425445.1:n.*543-213T>C
ENST00000511523.5:c.*542+2784T>C	ENSP00000422152.1:n.*542+2784T>C
NM_000809.3:c.722-213T>C	NP_000800.2:n.722-213T>C
NM_001204266.1:c.665-213T>C	NP_001191195.1:n.665-213T>C
NM_001204267.1:c.664+2784T>C	NP_001191196.1:n.664+2784T>C
XM_011513677.1:c.721+2784T>C	XP_011511979.1:n.721+2784T>C
NM_000809.4:c.722-213T>C MANE Select	NP_000800.2:n.722-213T>C
NM_001204266.2:c.665-213T>C	NP_001191195.1:n.665-213T>C
NM_001204267.2:c.664+2784T>C	NP_001191196.1:n.664+2784T>C