Canonical Allele Identifier: CA551650035

Gene: GABRB1

Linked Data

• dbSNP Id: rs780497165
• gnomAD v2: 4-47408988-A-C
• gnomAD v3: 4-47406971-A-C
• gnomAD v4: 4-47406971-A-C
• MyVariant Identifiers: chr4:g.47408988A>C (hg19) ; chr4:g.47406971A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406971A>C , CM000666.2:g.47406971A>C	GRCh38
NC_000004.11:g.47408988A>C , CM000666.1:g.47408988A>C	GRCh37
NC_000004.10:g.47103745A>C	NCBI36
NG_051831.1:g.380694A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.1080+45A>C MANE Select	ENSP00000295454.3:n.1080+45A>C
ENST00000295454.7:c.1080+45A>C	ENSP00000295454.3:n.1080+45A>C
NM_000812.3:c.1080+45A>C	NP_000803.2:n.1080+45A>C
XM_011513678.1:c.1059+45A>C	XP_011511980.1:n.1059+45A>C
XM_017007985.1:c.429+45A>C	XP_016863474.1:n.429+45A>C
XM_024453976.1:c.981+45A>C	XP_024309744.1:n.981+45A>C
XM_024453977.1:c.981+45A>C	XP_024309745.1:n.981+45A>C
XM_024453978.1:c.981+45A>C	XP_024309746.1:n.981+45A>C
NM_000812.4:c.1080+45A>C MANE Select	NP_000803.2:n.1080+45A>C