Canonical Allele Identifier: CA1061919031
Gene: GABRA4 HGNC NCBI

Linked Data

dbSNP Id: rs1722942460
gnomAD v3: 4-46971338-A-T
gnomAD v4: 4-46971338-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46971338A>T , CM000666.2:g.46971338A>T GRCh38
NC_000004.11:g.46973355A>T , CM000666.1:g.46973355A>T GRCh37
NC_000004.10:g.46668112A>T NCBI36
NG_011809.1:g.27226T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.4:c.722-103T>A MANE Select ENSP00000264318.3:n.722-103T>A
ENST00000264318.3:c.722-103T>A ENSP00000264318.3:n.722-103T>A
ENST00000502874.1:c.*492-103T>A ENSP00000424386.1:n.*492-103T>A
ENST00000508560.5:c.*543-103T>A ENSP00000425445.1:n.*543-103T>A
ENST00000511523.5:c.*542+2894T>A ENSP00000422152.1:n.*542+2894T>A
NM_000809.3:c.722-103T>A NP_000800.2:n.722-103T>A
NM_001204266.1:c.665-103T>A NP_001191195.1:n.665-103T>A
NM_001204267.1:c.664+2894T>A NP_001191196.1:n.664+2894T>A
XM_011513677.1:c.721+2894T>A XP_011511979.1:n.721+2894T>A
NM_000809.4:c.722-103T>A MANE Select NP_000800.2:n.722-103T>A
NM_001204266.2:c.665-103T>A NP_001191195.1:n.665-103T>A
NM_001204267.2:c.664+2894T>A NP_001191196.1:n.664+2894T>A