Canonical Allele Identifier: CA3586408
Gene: B4GALT7 HGNC NCBI

Linked Data

ClinVar Variation Id: 3132721
ClinVar RCV Id: RCV004423631
dbSNP Id: rs777486041

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177604346G>A , CM000667.2:g.177604346G>A GRCh38
NC_000005.9:g.177031347G>A , CM000667.1:g.177031347G>A GRCh37
NC_000005.8:g.176963953G>A NCBI36
NG_015977.1:g.9229G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000029410.10:c.218G>A MANE Select ENSP00000029410.5:p.Arg73His
ENST00000029410.9:c.218G>A ENSP00000029410.5:p.Arg73His
ENST00000502420.1:n.197G>A
ENST00000505433.5:c.218G>A ENSP00000425591.1:p.Arg73His
ENST00000505468.1:c.-125G>A ENSP00000420886.1:n.-125G>A
ENST00000507061.1:c.35G>A ENSP00000423868.1:p.Arg12His
ENST00000510761.1:c.-125G>A ENSP00000423438.1:n.-125G>A
NM_007255.2:c.218G>A NP_009186.1:p.Arg73His
XM_005265805.2:c.-125G>A XP_005265862.1:n.-125G>A
XM_006714816.2:c.-282G>A XP_006714879.1:n.-282G>A
XM_011534421.1:c.-125G>A XP_011532723.1:n.-125G>A
XM_006714816.4:c.-282G>A XP_006714879.1:n.-282G>A
XM_017008999.2:c.-125G>A XP_016864488.1:n.-125G>A
NM_007255.3:c.218G>A MANE Select NP_009186.1:p.Arg73His