Canonical Allele Identifier: CA356811967
Gene: GABRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2835037
ClinVar RCV Id: RCV003686942
gnomAD v4: 4-47406889-C-T
MyVariant Identifiers: chr4:g.47408906C>T (hg19) chr4:g.47406889C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406889C>T , CM000666.2:g.47406889C>T GRCh38
NC_000004.11:g.47408906C>T , CM000666.1:g.47408906C>T GRCh37
NC_000004.10:g.47103663C>T NCBI36
NG_051831.1:g.380612C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1043C>T MANE Select ENSP00000295454.3:p.Ala348Val
ENST00000295454.7:c.1043C>T ENSP00000295454.3:p.Ala348Val
NM_000812.3:c.1043C>T NP_000803.2:p.Ala348Val
XM_011513678.1:c.1022C>T XP_011511980.1:p.Ala341Val
XM_017007985.1:c.392C>T XP_016863474.1:p.Ala131Val
XM_024453976.1:c.944C>T XP_024309744.1:p.Ala315Val
XM_024453977.1:c.944C>T XP_024309745.1:p.Ala315Val
XM_024453978.1:c.944C>T XP_024309746.1:p.Ala315Val
NM_000812.4:c.1043C>T MANE Select NP_000803.2:p.Ala348Val
Search 100 bp 5'
Search 100 bp 3'