Canonical Allele Identifier: CA381418838

Gene: B4GAT1

Linked Data

• ClinVar Variation Id: 426572
• ClinVar RCV Id: RCV000488914 ; RCV000823196
• dbSNP Id: rs1085307691
• gnomAD v2: 11-66114791-T-C
• gnomAD v3: 11-66347320-T-C
• gnomAD v4: 11-66347320-T-C
• MyVariant Identifiers: chr11:g.66114791T>C (hg19) ; chr11:g.66347320T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66347320T>C , CM000673.2:g.66347320T>C	GRCh38
NC_000011.9:g.66114791T>C , CM000673.1:g.66114791T>C	GRCh37
NC_000011.8:g.65871367T>C	NCBI36
NG_033202.1:g.5371A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311181.5:c.226A>G MANE Select	ENSP00000309096.4:p.Ser76Gly
ENST00000311181.4:c.226A>G	ENSP00000309096.4:p.Ser76Gly
NM_006876.2:c.226A>G	NP_006867.1:p.Ser76Gly
NM_006876.3:c.226A>G MANE Select	NP_006867.1:p.Ser76Gly