Canonical Allele Identifier: CA795469986

Gene: GABRB1

Linked Data

• dbSNP Id: rs1191078454
• gnomAD v3: 4-47407021-A-C
• gnomAD v4: 4-47407021-A-C
• MyVariant Identifiers: chr4:g.47409038A>C (hg19) ; chr4:g.47407021A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47407021A>C , CM000666.2:g.47407021A>C	GRCh38
NC_000004.11:g.47409038A>C , CM000666.1:g.47409038A>C	GRCh37
NC_000004.10:g.47103795A>C	NCBI36
NG_051831.1:g.380744A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.1080+95A>C MANE Select	ENSP00000295454.3:n.1080+95A>C
ENST00000295454.7:c.1080+95A>C	ENSP00000295454.3:n.1080+95A>C
NM_000812.3:c.1080+95A>C	NP_000803.2:n.1080+95A>C
XM_011513678.1:c.1059+95A>C	XP_011511980.1:n.1059+95A>C
XM_017007985.1:c.429+95A>C	XP_016863474.1:n.429+95A>C
XM_024453976.1:c.981+95A>C	XP_024309744.1:n.981+95A>C
XM_024453977.1:c.981+95A>C	XP_024309745.1:n.981+95A>C
XM_024453978.1:c.981+95A>C	XP_024309746.1:n.981+95A>C
NM_000812.4:c.1080+95A>C MANE Select	NP_000803.2:n.1080+95A>C