Canonical Allele Identifier: CA356811286

Gene: GABRB1

Linked Data

• MyVariant Identifiers: chr4:g.47408737C>A (hg19) ; chr4:g.47406720C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406720C>A , CM000666.2:g.47406720C>A	GRCh38
NC_000004.11:g.47408737C>A , CM000666.1:g.47408737C>A	GRCh37
NC_000004.10:g.47103494C>A	NCBI36
NG_051831.1:g.380443C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295454.8:c.874C>A MANE Select	ENSP00000295454.3:p.His292Asn
ENST00000295454.7:c.874C>A	ENSP00000295454.3:p.His292Asn
NM_000812.3:c.874C>A	NP_000803.2:p.His292Asn
XM_011513678.1:c.853C>A	XP_011511980.1:p.His285Asn
XM_017007985.1:c.223C>A	XP_016863474.1:p.His75Asn
XM_024453976.1:c.775C>A	XP_024309744.1:p.His259Asn
XM_024453977.1:c.775C>A	XP_024309745.1:p.His259Asn
XM_024453978.1:c.775C>A	XP_024309746.1:p.His259Asn
NM_000812.4:c.874C>A MANE Select	NP_000803.2:p.His292Asn