Canonical Allele Identifier: CA375756093

Gene: TUBB4B

Linked Data

• ClinVar Variation Id: 492938
• ClinVar RCV Id: RCV000584731 ; RCV001683598
• dbSNP Id: rs1554786803
• MyVariant Identifiers: chr9:g.140137842G>A (hg19) ; chr9:g.137243390G>A (hg38)
• PubMed: PMID:29198720

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137243390G>A , CM000671.2:g.137243390G>A	GRCh38
NC_000009.11:g.140137842G>A , CM000671.1:g.140137842G>A	GRCh37
NC_000009.10:g.139257663G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340384.5:c.1172G>A MANE Select	ENSP00000341289.4:p.Arg391His
ENST00000340384.4:c.1172G>A	ENSP00000341289.4:p.Arg391His
ENST00000604929.1:n.1719G>A
NM_006088.5:c.1172G>A	NP_006079.1:p.Arg391His
NM_006088.6:c.1172G>A MANE Select	NP_006079.1:p.Arg391His