Canonical Allele Identifier: CA3586454

Gene: B4GALT7

Linked Data

• ClinVar Variation Id: 849803
• ClinVar RCV Id: RCV001053837 ; RCV001538738
• dbSNP Id: rs568792091
• ExAC: 5:177031503 G / A
• gnomAD v2: 5-177031503-G-A
• gnomAD v3: 5-177604502-G-A
• gnomAD v4: 5-177604502-G-A
• MyVariant Identifiers: chr5:g.177031503G>A (hg19) ; chr5:g.177604502G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604502G>A , CM000667.2:g.177604502G>A	GRCh38
NC_000005.9:g.177031503G>A , CM000667.1:g.177031503G>A	GRCh37
NC_000005.8:g.176964109G>A	NCBI36
NG_015977.1:g.9385G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.374G>A MANE Select	ENSP00000029410.5:p.Arg125Gln
ENST00000029410.9:c.374G>A	ENSP00000029410.5:p.Arg125Gln
ENST00000502420.1:n.353G>A
ENST00000505433.5:c.374G>A	ENSP00000425591.1:p.Arg125Gln
ENST00000505468.1:c.32G>A	ENSP00000420886.1:p.Arg11Gln
ENST00000507061.1:c.191G>A	ENSP00000423868.1:p.Arg64Gln
ENST00000510761.1:c.32G>A	ENSP00000423438.1:p.Arg11Gln
NM_007255.2:c.374G>A	NP_009186.1:p.Arg125Gln
XM_005265805.2:c.32G>A	XP_005265862.1:p.Arg11Gln
XM_006714816.2:c.-126G>A	XP_006714879.1:n.-126G>A
XM_011534421.1:c.32G>A	XP_011532723.1:p.Arg11Gln
XM_006714816.4:c.-126G>A	XP_006714879.1:n.-126G>A
XM_017008999.2:c.32G>A	XP_016864488.1:p.Arg11Gln
NM_007255.3:c.374G>A MANE Select	NP_009186.1:p.Arg125Gln