Canonical Allele Identifier: CA97250628

Gene: GABRB1

Linked Data

• dbSNP Id: rs767248167
• MyVariant Identifiers: chr4:g.47143289C>G (hg19) ; chr4:g.47141272C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47141272C>G , CM000666.2:g.47141272C>G	GRCh38
NC_000004.11:g.47143289C>G , CM000666.1:g.47143289C>G	GRCh37
NC_000004.10:g.46838046C>G	NCBI36
NG_051831.1:g.114995C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295454.8:c.241-19977C>G MANE Select	ENSP00000295454.3:n.241-19977C>G
ENST00000295454.7:c.241-19977C>G	ENSP00000295454.3:n.241-19977C>G
ENST00000510909.1:c.173-19977C>G	ENSP00000426766.1:n.173-19977C>G
ENST00000513567.5:c.142-19977C>G	ENSP00000426753.1:n.142-19977C>G
NM_000812.3:c.241-19977C>G	NP_000803.2:n.241-19977C>G
XM_011513678.1:c.220-19977C>G	XP_011511980.1:n.220-19977C>G
XM_017007986.2:c.241-19977C>G	XP_016863475.1:n.241-19977C>G
XM_024453976.1:c.142-19977C>G	XP_024309744.1:n.142-19977C>G
XM_024453977.1:c.142-19977C>G	XP_024309745.1:n.142-19977C>G
XM_024453978.1:c.142-19977C>G	XP_024309746.1:n.142-19977C>G
NM_000812.4:c.241-19977C>G MANE Select	NP_000803.2:n.241-19977C>G