Canonical Allele Identifier: CA2907708

Gene: GABRB1

Linked Data

• ClinVar Variation Id: 1636675
• ClinVar RCV Id: RCV002135531
• dbSNP Id: rs746343478
• ExAC: 4:47408736 C / T
• gnomAD v2: 4-47408736-C-T
• gnomAD v4: 4-47406719-C-T
• MyVariant Identifiers: chr4:g.47408736C>T (hg19) ; chr4:g.47406719C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406719C>T , CM000666.2:g.47406719C>T	GRCh38
NC_000004.11:g.47408736C>T , CM000666.1:g.47408736C>T	GRCh37
NC_000004.10:g.47103493C>T	NCBI36
NG_051831.1:g.380442C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295454.8:c.873C>T MANE Select	ENSP00000295454.3:p.Thr291=
ENST00000295454.7:c.873C>T	ENSP00000295454.3:p.Thr291=
NM_000812.3:c.873C>T	NP_000803.2:p.Thr291=
XM_011513678.1:c.852C>T	XP_011511980.1:p.Thr284=
XM_017007985.1:c.222C>T	XP_016863474.1:p.Thr74=
XM_024453976.1:c.774C>T	XP_024309744.1:p.Thr258=
XM_024453977.1:c.774C>T	XP_024309745.1:p.Thr258=
XM_024453978.1:c.774C>T	XP_024309746.1:p.Thr258=
NM_000812.4:c.873C>T MANE Select	NP_000803.2:p.Thr291=