Canonical Allele Identifier: CA2907707

Gene: GABRB1

Linked Data

• dbSNP Id: rs780797468
• ExAC: 4:47408729 T / A
• gnomAD v2: 4-47408729-T-A
• gnomAD v4: 4-47406712-T-A
• MyVariant Identifiers: chr4:g.47408729T>A (hg19) ; chr4:g.47406712T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000295454.8:c.866T>A MANE Select	ENSP00000295454.3:p.Ile289Asn
ENST00000295454.7:c.866T>A	ENSP00000295454.3:p.Ile289Asn
NM_000812.3:c.866T>A	NP_000803.2:p.Ile289Asn
XM_011513678.1:c.845T>A	XP_011511980.1:p.Ile282Asn
XM_017007985.1:c.215T>A	XP_016863474.1:p.Ile72Asn
XM_024453976.1:c.767T>A	XP_024309744.1:p.Ile256Asn
XM_024453977.1:c.767T>A	XP_024309745.1:p.Ile256Asn
XM_024453978.1:c.767T>A	XP_024309746.1:p.Ile256Asn
NM_000812.4:c.866T>A MANE Select	NP_000803.2:p.Ile289Asn