Canonical Allele Identifier: CA439245807

Gene: GABRB1

Linked Data

• MyVariant Identifiers: chr4:g.47408805T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406788T>C , CM000666.2:g.47406788T>C	GRCh38
NC_000004.11:g.47408805T>C , CM000666.1:g.47408805T>C	GRCh37
NC_000004.10:g.47103562T>C	NCBI36
NG_051831.1:g.380511T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.942T>C MANE Select	ENSP00000295454.3:p.Phe314=
ENST00000295454.7:c.942T>C	ENSP00000295454.3:p.Phe314=
NM_000812.3:c.942T>C	NP_000803.2:p.Phe314=
XM_011513678.1:c.921T>C	XP_011511980.1:p.Phe307=
XM_017007985.1:c.291T>C	XP_016863474.1:p.Phe97=
XM_024453976.1:c.843T>C	XP_024309744.1:p.Phe281=
XM_024453977.1:c.843T>C	XP_024309745.1:p.Phe281=
XM_024453978.1:c.843T>C	XP_024309746.1:p.Phe281=
NM_000812.4:c.942T>C MANE Select	NP_000803.2:p.Phe314=