Canonical Allele Identifier: CA356811270

Gene: GABRB1

Linked Data

• ClinVar Variation Id: 2580117
• ClinVar RCV Id: RCV003329092
• gnomAD v3: 4-47406712-T-C
• gnomAD v4: 4-47406712-T-C
• MyVariant Identifiers: chr4:g.47408729T>C (hg19) ; chr4:g.47406712T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406712T>C , CM000666.2:g.47406712T>C	GRCh38
NC_000004.11:g.47408729T>C , CM000666.1:g.47408729T>C	GRCh37
NC_000004.10:g.47103486T>C	NCBI36
NG_051831.1:g.380435T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295454.8:c.866T>C MANE Select	ENSP00000295454.3:p.Ile289Thr
ENST00000295454.7:c.866T>C	ENSP00000295454.3:p.Ile289Thr
NM_000812.3:c.866T>C	NP_000803.2:p.Ile289Thr
XM_011513678.1:c.845T>C	XP_011511980.1:p.Ile282Thr
XM_017007985.1:c.215T>C	XP_016863474.1:p.Ile72Thr
XM_024453976.1:c.767T>C	XP_024309744.1:p.Ile256Thr
XM_024453977.1:c.767T>C	XP_024309745.1:p.Ile256Thr
XM_024453978.1:c.767T>C	XP_024309746.1:p.Ile256Thr
NM_000812.4:c.866T>C MANE Select	NP_000803.2:p.Ile289Thr