Canonical Allele Identifier: CA658797682

Gene: B4GAT1

Linked Data

• ClinVar Variation Id: 507234
• ClinVar RCV Id: RCV000606491 ; RCV000651514
• dbSNP Id: rs1555016387
• gnomAD v3: 11-66346484-G-C
• gnomAD v4: 11-66346484-G-C
• MyVariant Identifiers: chr11:g.66113955G>C (hg19) ; chr11:g.66346484G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66346484G>C , CM000673.2:g.66346484G>C	GRCh38
NC_000011.9:g.66113955G>C , CM000673.1:g.66113955G>C	GRCh37
NC_000011.8:g.65870531G>C	NCBI36
NG_033202.1:g.6207C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311181.5:c.1056+6C>G MANE Select	ENSP00000309096.4:n.1056+6C>G
ENST00000311181.4:c.1056+6C>G	ENSP00000309096.4:n.1056+6C>G
NM_006876.2:c.1056+6C>G	NP_006867.1:n.1056+6C>G
NM_006876.3:c.1056+6C>G MANE Select	NP_006867.1:n.1056+6C>G