Canonical Allele Identifier: CA6120440

Gene: B4GAT1

Linked Data

• ClinVar Variation Id: 541281
• ClinVar RCV Id: RCV001079253 ; RCV000828148
• dbSNP Id: rs143223962
• ExAC: 11:66113622 G / C
• gnomAD v2: 11-66113622-G-C
• gnomAD v3: 11-66346151-G-C
• gnomAD v4: 11-66346151-G-C
• MyVariant Identifiers: chr11:g.66113622G>C (hg19) ; chr11:g.66346151G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66346151G>C , CM000673.2:g.66346151G>C	GRCh38
NC_000011.9:g.66113622G>C , CM000673.1:g.66113622G>C	GRCh37
NC_000011.8:g.65870198G>C	NCBI36
NG_033202.1:g.6540C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311181.5:c.1146C>G MANE Select	ENSP00000309096.4:p.Phe382Leu
ENST00000311181.4:c.1146C>G	ENSP00000309096.4:p.Phe382Leu
NM_006876.2:c.1146C>G	NP_006867.1:p.Phe382Leu
NM_006876.3:c.1146C>G MANE Select	NP_006867.1:p.Phe382Leu