Canonical Allele Identifier: CA439245742

Gene: GABRB1

Linked Data

• dbSNP Id: rs1728585282
• gnomAD v3: 4-47406713-C-T
• gnomAD v4: 4-47406713-C-T
• MyVariant Identifiers: chr4:g.47408730C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406713C>T , CM000666.2:g.47406713C>T	GRCh38
NC_000004.11:g.47408730C>T , CM000666.1:g.47408730C>T	GRCh37
NC_000004.10:g.47103487C>T	NCBI36
NG_051831.1:g.380436C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295454.8:c.867C>T MANE Select	ENSP00000295454.3:p.Ile289=
ENST00000295454.7:c.867C>T	ENSP00000295454.3:p.Ile289=
NM_000812.3:c.867C>T	NP_000803.2:p.Ile289=
XM_011513678.1:c.846C>T	XP_011511980.1:p.Ile282=
XM_017007985.1:c.216C>T	XP_016863474.1:p.Ile72=
XM_024453976.1:c.768C>T	XP_024309744.1:p.Ile256=
XM_024453977.1:c.768C>T	XP_024309745.1:p.Ile256=
XM_024453978.1:c.768C>T	XP_024309746.1:p.Ile256=
NM_000812.4:c.867C>T MANE Select	NP_000803.2:p.Ile289=