Canonical Allele Identifier: CA97302397

Gene: GABRB1

Linked Data

• dbSNP Id: rs919770570
• gnomAD v3: 4-47406455-C-T
• gnomAD v4: 4-47406455-C-T
• MyVariant Identifiers: chr4:g.47408472C>T (hg19) ; chr4:g.47406455C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406455C>T , CM000666.2:g.47406455C>T	GRCh38
NC_000004.11:g.47408472C>T , CM000666.1:g.47408472C>T	GRCh37
NC_000004.10:g.47103229C>T	NCBI36
NG_051831.1:g.380178C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.836-227C>T MANE Select	ENSP00000295454.3:n.836-227C>T
ENST00000295454.7:c.836-227C>T	ENSP00000295454.3:n.836-227C>T
NM_000812.3:c.836-227C>T	NP_000803.2:n.836-227C>T
XM_011513678.1:c.815-227C>T	XP_011511980.1:n.815-227C>T
XM_017007985.1:c.185-227C>T	XP_016863474.1:n.185-227C>T
XM_024453976.1:c.737-227C>T	XP_024309744.1:n.737-227C>T
XM_024453977.1:c.737-227C>T	XP_024309745.1:n.737-227C>T
XM_024453978.1:c.737-227C>T	XP_024309746.1:n.737-227C>T
NM_000812.4:c.836-227C>T MANE Select	NP_000803.2:n.836-227C>T