Canonical Allele Identifier: CA439245752

Gene: GABRB1

Linked Data

• ClinVar Variation Id: 1565326
• ClinVar RCV Id: RCV002218262
• dbSNP Id: rs2110055018
• gnomAD v4: 4-47406722-C-T
• MyVariant Identifiers: chr4:g.47408739C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406722C>T , CM000666.2:g.47406722C>T	GRCh38
NC_000004.11:g.47408739C>T , CM000666.1:g.47408739C>T	GRCh37
NC_000004.10:g.47103496C>T	NCBI36
NG_051831.1:g.380445C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.876C>T MANE Select	ENSP00000295454.3:p.His292=
ENST00000295454.7:c.876C>T	ENSP00000295454.3:p.His292=
NM_000812.3:c.876C>T	NP_000803.2:p.His292=
XM_011513678.1:c.855C>T	XP_011511980.1:p.His285=
XM_017007985.1:c.225C>T	XP_016863474.1:p.His75=
XM_024453976.1:c.777C>T	XP_024309744.1:p.His259=
XM_024453977.1:c.777C>T	XP_024309745.1:p.His259=
XM_024453978.1:c.777C>T	XP_024309746.1:p.His259=
NM_000812.4:c.876C>T MANE Select	NP_000803.2:p.His292=