Canonical Allele Identifier: CA795448984
Gene: GABRA4 HGNC NCBI

Linked Data

dbSNP Id: rs1298278796
gnomAD v4: 4-46927621-A-G
MyVariant Identifiers: chr4:g.46929638A>G (hg19) chr4:g.46927621A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46927621A>G , CM000666.2:g.46927621A>G GRCh38
NC_000004.11:g.46929638A>G , CM000666.1:g.46929638A>G GRCh37
NC_000004.10:g.46624395A>G NCBI36
NG_011809.1:g.70943T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264318.4:c.*604T>C MANE Select ENSP00000264318.3:n.*604T>C
ENST00000264318.3:c.*604T>C ENSP00000264318.3:n.*604T>C
NM_000809.3:c.*604T>C NP_000800.2:n.*604T>C
NM_001204266.1:c.*604T>C NP_001191195.1:n.*604T>C
NM_001204267.1:c.*604T>C NP_001191196.1:n.*604T>C
XM_011513677.1:c.*604T>C XP_011511979.1:n.*604T>C
NM_000809.4:c.*604T>C MANE Select NP_000800.2:n.*604T>C
NM_001204266.2:c.*604T>C NP_001191195.1:n.*604T>C
NM_001204267.2:c.*604T>C NP_001191196.1:n.*604T>C
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