Canonical Allele Identifier: CA362374384

Gene: B4GALT7

Linked Data

• ClinVar Variation Id: 632558
• ClinVar RCV Id: RCV000779598 ; RCV001856177 ; RCV002462129 ; RCV003446432
• dbSNP Id: rs1370937766
• gnomAD v2: 5-177031527-A-G
• gnomAD v4: 5-177604526-A-G
• MyVariant Identifiers: chr5:g.177031527A>G (hg19) ; chr5:g.177604526A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604526A>G , CM000667.2:g.177604526A>G	GRCh38
NC_000005.9:g.177031527A>G , CM000667.1:g.177031527A>G	GRCh37
NC_000005.8:g.176964133A>G	NCBI36
NG_015977.1:g.9409A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.398A>G MANE Select	ENSP00000029410.5:p.Gln133Arg
ENST00000029410.9:c.398A>G	ENSP00000029410.5:p.Gln133Arg
ENST00000502420.1:n.377A>G
ENST00000505433.5:c.398A>G	ENSP00000425591.1:p.Gln133Arg
ENST00000505468.1:c.56A>G	ENSP00000420886.1:p.Gln19Arg
ENST00000507061.1:c.215A>G	ENSP00000423868.1:p.Gln72Arg
ENST00000510761.1:c.56A>G	ENSP00000423438.1:p.Gln19Arg
NM_007255.2:c.398A>G	NP_009186.1:p.Gln133Arg
XM_005265805.2:c.56A>G	XP_005265862.1:p.Gln19Arg
XM_006714816.2:c.-102A>G	XP_006714879.1:n.-102A>G
XM_011534421.1:c.56A>G	XP_011532723.1:p.Gln19Arg
XM_006714816.4:c.-102A>G	XP_006714879.1:n.-102A>G
XM_017008999.2:c.56A>G	XP_016864488.1:p.Gln19Arg
NM_007255.3:c.398A>G MANE Select	NP_009186.1:p.Gln133Arg