Canonical Allele Identifier: CA551310836

Gene: GABRB1

Linked Data

• dbSNP Id: rs1216105729
• gnomAD v2: 4-47408557-T-C
• gnomAD v3: 4-47406540-T-C
• gnomAD v4: 4-47406540-T-C
• MyVariant Identifiers: chr4:g.47408557T>C (hg19) ; chr4:g.47406540T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406540T>C , CM000666.2:g.47406540T>C	GRCh38
NC_000004.11:g.47408557T>C , CM000666.1:g.47408557T>C	GRCh37
NC_000004.10:g.47103314T>C	NCBI36
NG_051831.1:g.380263T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.836-142T>C MANE Select	ENSP00000295454.3:n.836-142T>C
ENST00000295454.7:c.836-142T>C	ENSP00000295454.3:n.836-142T>C
NM_000812.3:c.836-142T>C	NP_000803.2:n.836-142T>C
XM_011513678.1:c.815-142T>C	XP_011511980.1:n.815-142T>C
XM_017007985.1:c.185-142T>C	XP_016863474.1:n.185-142T>C
XM_024453976.1:c.737-142T>C	XP_024309744.1:n.737-142T>C
XM_024453977.1:c.737-142T>C	XP_024309745.1:n.737-142T>C
XM_024453978.1:c.737-142T>C	XP_024309746.1:n.737-142T>C
NM_000812.4:c.836-142T>C MANE Select	NP_000803.2:n.836-142T>C