Canonical Allele Identifier: CA356811614

Gene: GABRB1

Linked Data

• MyVariant Identifiers: chr4:g.47408815T>G (hg19) ; chr4:g.47406798T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406798T>G , CM000666.2:g.47406798T>G	GRCh38
NC_000004.11:g.47408815T>G , CM000666.1:g.47408815T>G	GRCh37
NC_000004.10:g.47103572T>G	NCBI36
NG_051831.1:g.380521T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.952T>G MANE Select	ENSP00000295454.3:p.Phe318Val
ENST00000295454.7:c.952T>G	ENSP00000295454.3:p.Phe318Val
NM_000812.3:c.952T>G	NP_000803.2:p.Phe318Val
XM_011513678.1:c.931T>G	XP_011511980.1:p.Phe311Val
XM_017007985.1:c.301T>G	XP_016863474.1:p.Phe101Val
XM_024453976.1:c.853T>G	XP_024309744.1:p.Phe285Val
XM_024453977.1:c.853T>G	XP_024309745.1:p.Phe285Val
XM_024453978.1:c.853T>G	XP_024309746.1:p.Phe285Val
NM_000812.4:c.952T>G MANE Select	NP_000803.2:p.Phe318Val