Canonical Allele Identifier: CA6120550

Gene: B4GAT1

Linked Data

• ClinVar Variation Id: 420984
• ClinVar RCV Id: RCV000481887 ; RCV002056789 ; RCV003409661
• dbSNP Id: rs761777602
• ExAC: 11:66114507 G / C
• gnomAD v2: 11-66114507-G-C
• gnomAD v3: 11-66347036-G-C
• gnomAD v4: 11-66347036-G-C
• MyVariant Identifiers: chr11:g.66114507G>C (hg19) ; chr11:g.66347036G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66347036G>C , CM000673.2:g.66347036G>C	GRCh38
NC_000011.9:g.66114507G>C , CM000673.1:g.66114507G>C	GRCh37
NC_000011.8:g.65871083G>C	NCBI36
NG_033202.1:g.5655C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311181.5:c.510C>G MANE Select	ENSP00000309096.4:p.Pro170=
ENST00000311181.4:c.510C>G	ENSP00000309096.4:p.Pro170=
NM_006876.2:c.510C>G	NP_006867.1:p.Pro170=
NM_006876.3:c.510C>G MANE Select	NP_006867.1:p.Pro170=