Canonical Allele Identifier: CA439245746

Gene: GABRB1

Linked Data

• gnomAD v4: 4-47406716-C-T
• MyVariant Identifiers: chr4:g.47408733C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406716C>T , CM000666.2:g.47406716C>T	GRCh38
NC_000004.11:g.47408733C>T , CM000666.1:g.47408733C>T	GRCh37
NC_000004.10:g.47103490C>T	NCBI36
NG_051831.1:g.380439C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295454.8:c.870C>T MANE Select	ENSP00000295454.3:p.Ser290=
ENST00000295454.7:c.870C>T	ENSP00000295454.3:p.Ser290=
NM_000812.3:c.870C>T	NP_000803.2:p.Ser290=
XM_011513678.1:c.849C>T	XP_011511980.1:p.Ser283=
XM_017007985.1:c.219C>T	XP_016863474.1:p.Ser73=
XM_024453976.1:c.771C>T	XP_024309744.1:p.Ser257=
XM_024453977.1:c.771C>T	XP_024309745.1:p.Ser257=
XM_024453978.1:c.771C>T	XP_024309746.1:p.Ser257=
NM_000812.4:c.870C>T MANE Select	NP_000803.2:p.Ser290=