Canonical Allele Identifier: CA439168782
Gene: GABRA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.46995436A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46993419A>C , CM000666.2:g.46993419A>C GRCh38
NC_000004.11:g.46995436A>C , CM000666.1:g.46995436A>C GRCh37
NC_000004.10:g.46690193A>C NCBI36
NG_011809.1:g.5145T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.4:c.6T>G MANE Select ENSP00000264318.3:p.Val2=
ENST00000264318.3:c.6T>G ENSP00000264318.3:p.Val2=
ENST00000502874.1:c.6T>G ENSP00000424386.1:p.Val2=
ENST00000508560.5:c.6T>G ENSP00000425445.1:p.Val2=
ENST00000509316.1:n.130T>G
ENST00000511523.5:c.6T>G ENSP00000422152.1:p.Val2=
NM_000809.3:c.6T>G NP_000800.2:p.Val2=
NM_001204266.1:c.17T>G NP_001191195.1:p.Phe6Cys
NM_001204267.1:c.17T>G NP_001191196.1:p.Phe6Cys
XM_011513677.1:c.6T>G XP_011511979.1:p.Val2=
NM_000809.4:c.6T>G MANE Select NP_000800.2:p.Val2=
NM_001204266.2:c.17T>G NP_001191195.1:p.Phe6Cys
NM_001204267.2:c.17T>G NP_001191196.1:p.Phe6Cys