Canonical Allele Identifier: CA356778000

Gene: GABRA4

Linked Data

• MyVariant Identifiers: chr4:g.46995422A>C (hg19) ; chr4:g.46993405A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46993405A>C , CM000666.2:g.46993405A>C	GRCh38
NC_000004.11:g.46995422A>C , CM000666.1:g.46995422A>C	GRCh37
NC_000004.10:g.46690179A>C	NCBI36
NG_011809.1:g.5159T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264318.4:c.20T>G MANE Select	ENSP00000264318.3:p.Val7Gly
ENST00000264318.3:c.20T>G	ENSP00000264318.3:p.Val7Gly
ENST00000502874.1:c.20T>G	ENSP00000424386.1:p.Val7Gly
ENST00000508560.5:c.18+2T>G	ENSP00000425445.1:n.18+2T>G
ENST00000509316.1:n.144T>G
ENST00000511523.5:c.18+2T>G	ENSP00000422152.1:n.18+2T>G
NM_000809.3:c.20T>G	NP_000800.2:p.Val7Gly
NM_001204266.1:c.29+2T>G	NP_001191195.1:n.29+2T>G
NM_001204267.1:c.29+2T>G	NP_001191196.1:n.29+2T>G
XM_011513677.1:c.20T>G	XP_011511979.1:p.Val7Gly
NM_000809.4:c.20T>G MANE Select	NP_000800.2:p.Val7Gly
NM_001204266.2:c.29+2T>G	NP_001191195.1:n.29+2T>G
NM_001204267.2:c.29+2T>G	NP_001191196.1:n.29+2T>G