Canonical Allele Identifier: CA362372989

Gene: B4GALT7

Linked Data

• ClinVar Variation Id: 1499505
• ClinVar RCV Id: RCV003891330
• dbSNP Id: rs1309659292
• gnomAD v3: 5-177604296-C-G
• gnomAD v4: 5-177604296-C-G
• MyVariant Identifiers: chr5:g.177031297C>G (hg19) ; chr5:g.177604296C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604296C>G , CM000667.2:g.177604296C>G	GRCh38
NC_000005.9:g.177031297C>G , CM000667.1:g.177031297C>G	GRCh37
NC_000005.8:g.176963903C>G	NCBI36
NG_015977.1:g.9179C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000029410.10:c.168C>G MANE Select	ENSP00000029410.5:p.Asp56Glu
ENST00000029410.9:c.168C>G	ENSP00000029410.5:p.Asp56Glu
ENST00000502420.1:n.147C>G
ENST00000505433.5:c.168C>G	ENSP00000425591.1:p.Asp56Glu
ENST00000505468.1:c.-175C>G	ENSP00000420886.1:n.-175C>G
ENST00000510761.1:c.-175C>G	ENSP00000423438.1:n.-175C>G
NM_007255.2:c.168C>G	NP_009186.1:p.Asp56Glu
XM_005265805.2:c.-175C>G	XP_005265862.1:n.-175C>G
XM_006714816.2:c.-332C>G	XP_006714879.1:n.-332C>G
XM_011534421.1:c.-175C>G	XP_011532723.1:n.-175C>G
XM_006714816.4:c.-332C>G	XP_006714879.1:n.-332C>G
XM_017008999.2:c.-175C>G	XP_016864488.1:n.-175C>G
NM_007255.3:c.168C>G MANE Select	NP_009186.1:p.Asp56Glu