Canonical Allele Identifier: CA97302420

Gene: GABRB1

Linked Data

• dbSNP Id: rs866922910
• gnomAD v2: 4-47408727-C-A
• gnomAD v4: 4-47406710-C-A
• MyVariant Identifiers: chr4:g.47408727C>A (hg19) ; chr4:g.47406710C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406710C>A , CM000666.2:g.47406710C>A	GRCh38
NC_000004.11:g.47408727C>A , CM000666.1:g.47408727C>A	GRCh37
NC_000004.10:g.47103484C>A	NCBI36
NG_051831.1:g.380433C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295454.8:c.864C>A MANE Select	ENSP00000295454.3:p.Thr288=
ENST00000295454.7:c.864C>A	ENSP00000295454.3:p.Thr288=
NM_000812.3:c.864C>A	NP_000803.2:p.Thr288=
XM_011513678.1:c.843C>A	XP_011511980.1:p.Thr281=
XM_017007985.1:c.213C>A	XP_016863474.1:p.Thr71=
XM_024453976.1:c.765C>A	XP_024309744.1:p.Thr255=
XM_024453977.1:c.765C>A	XP_024309745.1:p.Thr255=
XM_024453978.1:c.765C>A	XP_024309746.1:p.Thr255=
NM_000812.4:c.864C>A MANE Select	NP_000803.2:p.Thr288=