Canonical Allele Identifier: CA795469981

Gene: GABRB1

Linked Data

• dbSNP Id: rs1230539338
• gnomAD v3: 4-47407014-T-A
• gnomAD v4: 4-47407014-T-A
• MyVariant Identifiers: chr4:g.47409031T>A (hg19) ; chr4:g.47407014T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47407014T>A , CM000666.2:g.47407014T>A	GRCh38
NC_000004.11:g.47409031T>A , CM000666.1:g.47409031T>A	GRCh37
NC_000004.10:g.47103788T>A	NCBI36
NG_051831.1:g.380737T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.1080+88T>A MANE Select	ENSP00000295454.3:n.1080+88T>A
ENST00000295454.7:c.1080+88T>A	ENSP00000295454.3:n.1080+88T>A
NM_000812.3:c.1080+88T>A	NP_000803.2:n.1080+88T>A
XM_011513678.1:c.1059+88T>A	XP_011511980.1:n.1059+88T>A
XM_017007985.1:c.429+88T>A	XP_016863474.1:n.429+88T>A
XM_024453976.1:c.981+88T>A	XP_024309744.1:n.981+88T>A
XM_024453977.1:c.981+88T>A	XP_024309745.1:n.981+88T>A
XM_024453978.1:c.981+88T>A	XP_024309746.1:n.981+88T>A
NM_000812.4:c.1080+88T>A MANE Select	NP_000803.2:n.1080+88T>A