Canonical Allele Identifier: CA439245762

Gene: GABRB1

Linked Data

• COSMIC: COSM1724905
• MyVariant Identifiers: chr4:g.47408751C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406734C>T , CM000666.2:g.47406734C>T	GRCh38
NC_000004.11:g.47408751C>T , CM000666.1:g.47408751C>T	GRCh37
NC_000004.10:g.47103508C>T	NCBI36
NG_051831.1:g.380457C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.888C>T MANE Select	ENSP00000295454.3:p.Thr296=
ENST00000295454.7:c.888C>T	ENSP00000295454.3:p.Thr296=
NM_000812.3:c.888C>T	NP_000803.2:p.Thr296=
XM_011513678.1:c.867C>T	XP_011511980.1:p.Thr289=
XM_017007985.1:c.237C>T	XP_016863474.1:p.Thr79=
XM_024453976.1:c.789C>T	XP_024309744.1:p.Thr263=
XM_024453977.1:c.789C>T	XP_024309745.1:p.Thr263=
XM_024453978.1:c.789C>T	XP_024309746.1:p.Thr263=
NM_000812.4:c.888C>T MANE Select	NP_000803.2:p.Thr296=