Canonical Allele Identifier: CA3586411

Gene: B4GALT7

Linked Data

• dbSNP Id: rs774214060
• ExAC: 5:177031353 G / GC
• gnomAD v2: 5-177031353-G-GC
• gnomAD v3: 5-177604352-G-GC
• gnomAD v4: 5-177604352-G-GC
• COSMIC: COSM4611154
• MyVariant Identifiers: chr5:g.177031353_177031354insC (hg19) ; chr5:g.177604352_177604353insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604358dup , CM000667.2:g.177604358dup	GRCh38
NC_000005.9:g.177031359dup , CM000667.1:g.177031359dup	GRCh37
NC_000005.8:g.176963965dup	NCBI36
NG_015977.1:g.9241dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.230dup MANE Select	ENSP00000029410.5:p.Glu78ArgfsTer5
ENST00000029410.9:c.230dup	ENSP00000029410.5:p.Glu78ArgfsTer5
ENST00000502420.1:n.209dup
ENST00000505433.5:c.230dup	ENSP00000425591.1:p.Glu78ArgfsTer5
ENST00000505468.1:c.-113dup	ENSP00000420886.1:n.-113dup
ENST00000507061.1:c.47dup	ENSP00000423868.1:p.Glu17ArgfsTer5
ENST00000510761.1:c.-113dup	ENSP00000423438.1:n.-113dup
NM_007255.2:c.230dup	NP_009186.1:p.Glu78ArgfsTer5
XM_005265805.2:c.-113dup	XP_005265862.1:n.-113dup
XM_006714816.2:c.-270dup	XP_006714879.1:n.-270dup
XM_011534421.1:c.-113dup	XP_011532723.1:n.-113dup
XM_006714816.4:c.-270dup	XP_006714879.1:n.-270dup
XM_017008999.2:c.-113dup	XP_016864488.1:n.-113dup
NM_007255.3:c.230dup MANE Select	NP_009186.1:p.Glu78ArgfsTer5