Canonical Allele Identifier: CA2907360
Gene: GABRA4 HGNC NCBI

Linked Data

dbSNP Id: rs773295666
gnomAD v2: 4-46995434-G-A
gnomAD v4: 4-46993417-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46993417G>A , CM000666.2:g.46993417G>A GRCh38
NC_000004.11:g.46995434G>A , CM000666.1:g.46995434G>A GRCh37
NC_000004.10:g.46690191G>A NCBI36
NG_011809.1:g.5147C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.4:c.8C>T MANE Select ENSP00000264318.3:p.Ser3Phe
ENST00000264318.3:c.8C>T ENSP00000264318.3:p.Ser3Phe
ENST00000502874.1:c.8C>T ENSP00000424386.1:p.Ser3Phe
ENST00000508560.5:c.8C>T ENSP00000425445.1:p.Ser3Phe
ENST00000509316.1:n.132C>T
ENST00000511523.5:c.8C>T ENSP00000422152.1:p.Ser3Phe
NM_000809.3:c.8C>T NP_000800.2:p.Ser3Phe
NM_001204266.1:c.19C>T NP_001191195.1:p.Leu7=
NM_001204267.1:c.19C>T NP_001191196.1:p.Leu7=
XM_011513677.1:c.8C>T XP_011511979.1:p.Ser3Phe
NM_000809.4:c.8C>T MANE Select NP_000800.2:p.Ser3Phe
NM_001204266.2:c.19C>T NP_001191195.1:p.Leu7=
NM_001204267.2:c.19C>T NP_001191196.1:p.Leu7=