Canonical Allele Identifier: CA356811285

Gene: GABRB1

Linked Data

• COSMIC: COSM5709254
• MyVariant Identifiers: chr4:g.47408735C>T (hg19) ; chr4:g.47406718C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406718C>T , CM000666.2:g.47406718C>T	GRCh38
NC_000004.11:g.47408735C>T , CM000666.1:g.47408735C>T	GRCh37
NC_000004.10:g.47103492C>T	NCBI36
NG_051831.1:g.380441C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295454.8:c.872C>T MANE Select	ENSP00000295454.3:p.Thr291Ile
ENST00000295454.7:c.872C>T	ENSP00000295454.3:p.Thr291Ile
NM_000812.3:c.872C>T	NP_000803.2:p.Thr291Ile
XM_011513678.1:c.851C>T	XP_011511980.1:p.Thr284Ile
XM_017007985.1:c.221C>T	XP_016863474.1:p.Thr74Ile
XM_024453976.1:c.773C>T	XP_024309744.1:p.Thr258Ile
XM_024453977.1:c.773C>T	XP_024309745.1:p.Thr258Ile
XM_024453978.1:c.773C>T	XP_024309746.1:p.Thr258Ile
NM_000812.4:c.872C>T MANE Select	NP_000803.2:p.Thr291Ile