Canonical Allele Identifier: CA551650037

Gene: GABRB1

Linked Data

• dbSNP Id: rs1177457598
• gnomAD v2: 4-47409003-C-T
• gnomAD v3: 4-47406986-C-T
• gnomAD v4: 4-47406986-C-T
• MyVariant Identifiers: chr4:g.47409003C>T (hg19) ; chr4:g.47406986C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406986C>T , CM000666.2:g.47406986C>T	GRCh38
NC_000004.11:g.47409003C>T , CM000666.1:g.47409003C>T	GRCh37
NC_000004.10:g.47103760C>T	NCBI36
NG_051831.1:g.380709C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.1080+60C>T MANE Select	ENSP00000295454.3:n.1080+60C>T
ENST00000295454.7:c.1080+60C>T	ENSP00000295454.3:n.1080+60C>T
NM_000812.3:c.1080+60C>T	NP_000803.2:n.1080+60C>T
XM_011513678.1:c.1059+60C>T	XP_011511980.1:n.1059+60C>T
XM_017007985.1:c.429+60C>T	XP_016863474.1:n.429+60C>T
XM_024453976.1:c.981+60C>T	XP_024309744.1:n.981+60C>T
XM_024453977.1:c.981+60C>T	XP_024309745.1:n.981+60C>T
XM_024453978.1:c.981+60C>T	XP_024309746.1:n.981+60C>T
NM_000812.4:c.1080+60C>T MANE Select	NP_000803.2:n.1080+60C>T