Canonical Allele Identifier: CA356811955
Gene: GABRB1 HGNC NCBI

Linked Data

dbSNP Id: rs1252614679
gnomAD v2: 4-47408901-G-C
gnomAD v3: 4-47406884-G-C
gnomAD v4: 4-47406884-G-C
MyVariant Identifiers: chr4:g.47408901G>C (hg19) chr4:g.47406884G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406884G>C , CM000666.2:g.47406884G>C GRCh38
NC_000004.11:g.47408901G>C , CM000666.1:g.47408901G>C GRCh37
NC_000004.10:g.47103658G>C NCBI36
NG_051831.1:g.380607G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1038G>C MANE Select ENSP00000295454.3:p.Gln346His
ENST00000295454.7:c.1038G>C ENSP00000295454.3:p.Gln346His
NM_000812.3:c.1038G>C NP_000803.2:p.Gln346His
XM_011513678.1:c.1017G>C XP_011511980.1:p.Gln339His
XM_017007985.1:c.387G>C XP_016863474.1:p.Gln129His
XM_024453976.1:c.939G>C XP_024309744.1:p.Gln313His
XM_024453977.1:c.939G>C XP_024309745.1:p.Gln313His
XM_024453978.1:c.939G>C XP_024309746.1:p.Gln313His
NM_000812.4:c.1038G>C MANE Select NP_000803.2:p.Gln346His
Search 100 bp 5'
Search 100 bp 3'