Canonical Allele Identifier: CA10581311

Gene: B4GAT1

Linked Data

• ClinVar Variation Id: 235443
• ClinVar RCV Id: RCV000224604 ; RCV001243362
• dbSNP Id: rs878853035
• gnomAD v4: 11-66346230-A-G
• MyVariant Identifiers: chr11:g.66113701A>G (hg19) ; chr11:g.66346230A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66346230A>G , CM000673.2:g.66346230A>G	GRCh38
NC_000011.9:g.66113701A>G , CM000673.1:g.66113701A>G	GRCh37
NC_000011.8:g.65870277A>G	NCBI36
NG_033202.1:g.6461T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311181.5:c.1067T>C MANE Select	ENSP00000309096.4:p.Leu356Pro
ENST00000311181.4:c.1067T>C	ENSP00000309096.4:p.Leu356Pro
NM_006876.2:c.1067T>C	NP_006867.1:p.Leu356Pro
NM_006876.3:c.1067T>C MANE Select	NP_006867.1:p.Leu356Pro