Canonical Allele Identifier: CA356811976
Gene: GABRB1 HGNC NCBI

Linked Data

dbSNP Id: rs1490764563
gnomAD v2: 4-47408910-T-G
gnomAD v4: 4-47406893-T-G
MyVariant Identifiers: chr4:g.47408910T>G (hg19) chr4:g.47406893T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406893T>G , CM000666.2:g.47406893T>G GRCh38
NC_000004.11:g.47408910T>G , CM000666.1:g.47408910T>G GRCh37
NC_000004.10:g.47103667T>G NCBI36
NG_051831.1:g.380616T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1047T>G MANE Select ENSP00000295454.3:p.Asn349Lys
ENST00000295454.7:c.1047T>G ENSP00000295454.3:p.Asn349Lys
NM_000812.3:c.1047T>G NP_000803.2:p.Asn349Lys
XM_011513678.1:c.1026T>G XP_011511980.1:p.Asn342Lys
XM_017007985.1:c.396T>G XP_016863474.1:p.Asn132Lys
XM_024453976.1:c.948T>G XP_024309744.1:p.Asn316Lys
XM_024453977.1:c.948T>G XP_024309745.1:p.Asn316Lys
XM_024453978.1:c.948T>G XP_024309746.1:p.Asn316Lys
NM_000812.4:c.1047T>G MANE Select NP_000803.2:p.Asn349Lys
Search 100 bp 5'
Search 100 bp 3'