Canonical Allele Identifier: CA16619379

Gene: B4GAT1

Linked Data

• ClinVar Variation Id: 423075
• ClinVar RCV Id: RCV000483718 ; RCV000686916
• dbSNP Id: rs1012499887
• gnomAD v3: 11-66346161-G-C
• gnomAD v4: 11-66346161-G-C
• MyVariant Identifiers: chr11:g.66113632G>C (hg19) ; chr11:g.66346161G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66346161G>C , CM000673.2:g.66346161G>C	GRCh38
NC_000011.9:g.66113632G>C , CM000673.1:g.66113632G>C	GRCh37
NC_000011.8:g.65870208G>C	NCBI36
NG_033202.1:g.6530C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311181.5:c.1136C>G MANE Select	ENSP00000309096.4:p.Ala379Gly
ENST00000311181.4:c.1136C>G	ENSP00000309096.4:p.Ala379Gly
NM_006876.2:c.1136C>G	NP_006867.1:p.Ala379Gly
NM_006876.3:c.1136C>G MANE Select	NP_006867.1:p.Ala379Gly