Canonical Allele Identifier: CA2670525216

Gene: GABRA4

Linked Data

• gnomAD v4: 4-46971339-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46971339A>C , CM000666.2:g.46971339A>C	GRCh38
NC_000004.11:g.46973356A>C , CM000666.1:g.46973356A>C	GRCh37
NC_000004.10:g.46668113A>C	NCBI36
NG_011809.1:g.27225T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264318.4:c.722-104T>G MANE Select	ENSP00000264318.3:n.722-104T>G
ENST00000264318.3:c.722-104T>G	ENSP00000264318.3:n.722-104T>G
ENST00000502874.1:c.*492-104T>G	ENSP00000424386.1:n.*492-104T>G
ENST00000508560.5:c.*543-104T>G	ENSP00000425445.1:n.*543-104T>G
ENST00000511523.5:c.*542+2893T>G	ENSP00000422152.1:n.*542+2893T>G
NM_000809.3:c.722-104T>G	NP_000800.2:n.722-104T>G
NM_001204266.1:c.665-104T>G	NP_001191195.1:n.665-104T>G
NM_001204267.1:c.664+2893T>G	NP_001191196.1:n.664+2893T>G
XM_011513677.1:c.721+2893T>G	XP_011511979.1:n.721+2893T>G
NM_000809.4:c.722-104T>G MANE Select	NP_000800.2:n.722-104T>G
NM_001204266.2:c.665-104T>G	NP_001191195.1:n.665-104T>G
NM_001204267.2:c.664+2893T>G	NP_001191196.1:n.664+2893T>G