Canonical Allele Identifier: CA2697546588

Gene: B4GALT7

Linked Data

• ClinVar Variation Id: 2766026
• ClinVar RCV Id: RCV003892064

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608890A>C , CM000667.2:g.177608890A>C	GRCh38
NC_000005.9:g.177035891A>C , CM000667.1:g.177035891A>C	GRCh37
NC_000005.8:g.176968497A>C	NCBI36
NG_015977.1:g.13773A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.724-20A>C MANE Select	ENSP00000029410.5:n.724-20A>C
ENST00000029410.9:c.724-20A>C	ENSP00000029410.5:n.724-20A>C
ENST00000505145.1:n.1822-20A>C
ENST00000505433.5:c.*230-20A>C	ENSP00000425591.1:n.*230-20A>C
ENST00000515353.1:n.1526A>C
NM_007255.2:c.724-20A>C	NP_009186.1:n.724-20A>C
XM_005265805.2:c.382-20A>C	XP_005265862.1:n.382-20A>C
XM_006714816.2:c.244-20A>C	XP_006714879.1:n.244-20A>C
XM_011534421.1:c.382-20A>C	XP_011532723.1:n.382-20A>C
XM_006714816.4:c.244-20A>C	XP_006714879.1:n.244-20A>C
XM_017008999.2:c.382-20A>C	XP_016864488.1:n.382-20A>C
NM_007255.3:c.724-20A>C MANE Select	NP_009186.1:n.724-20A>C