Canonical Allele Identifier: CA362373879

Gene: B4GALT7

Linked Data

• ClinVar Variation Id: 1484495
• ClinVar RCV Id: RCV003891327
• dbSNP Id: rs1767927068
• gnomAD v4: 5-177604447-G-C
• COSMIC: COSM4347222
• MyVariant Identifiers: chr5:g.177031448G>C (hg19) ; chr5:g.177604447G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604447G>C , CM000667.2:g.177604447G>C	GRCh38
NC_000005.9:g.177031448G>C , CM000667.1:g.177031448G>C	GRCh37
NC_000005.8:g.176964054G>C	NCBI36
NG_015977.1:g.9330G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.319G>C MANE Select	ENSP00000029410.5:p.Glu107Gln
ENST00000029410.9:c.319G>C	ENSP00000029410.5:p.Glu107Gln
ENST00000502420.1:n.298G>C
ENST00000505433.5:c.319G>C	ENSP00000425591.1:p.Glu107Gln
ENST00000505468.1:c.-24G>C	ENSP00000420886.1:n.-24G>C
ENST00000507061.1:c.136G>C	ENSP00000423868.1:p.Glu46Gln
ENST00000510761.1:c.-24G>C	ENSP00000423438.1:n.-24G>C
NM_007255.2:c.319G>C	NP_009186.1:p.Glu107Gln
XM_005265805.2:c.-24G>C	XP_005265862.1:n.-24G>C
XM_006714816.2:c.-181G>C	XP_006714879.1:n.-181G>C
XM_011534421.1:c.-24G>C	XP_011532723.1:n.-24G>C
XM_006714816.4:c.-181G>C	XP_006714879.1:n.-181G>C
XM_017008999.2:c.-24G>C	XP_016864488.1:n.-24G>C
NM_007255.3:c.319G>C MANE Select	NP_009186.1:p.Glu107Gln