Canonical Allele Identifier: CA362372638
Gene: B4GALT7 HGNC NCBI

Linked Data

ClinVar Variation Id: 3132720
ClinVar RCV Id: RCV004423630
dbSNP Id: rs1382067342

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177604237G>A , CM000667.2:g.177604237G>A GRCh38
NC_000005.9:g.177031238G>A , CM000667.1:g.177031238G>A GRCh37
NC_000005.8:g.176963844G>A NCBI36
NG_015977.1:g.9120G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000029410.10:c.109G>A MANE Select ENSP00000029410.5:p.Ala37Thr
ENST00000029410.9:c.109G>A ENSP00000029410.5:p.Ala37Thr
ENST00000502420.1:n.130-42G>A
ENST00000505433.5:c.109G>A ENSP00000425591.1:p.Ala37Thr
ENST00000505468.1:c.-234G>A ENSP00000420886.1:n.-234G>A
ENST00000510761.1:c.-234G>A ENSP00000423438.1:n.-234G>A
NM_007255.2:c.109G>A NP_009186.1:p.Ala37Thr
XM_005265805.2:c.-234G>A XP_005265862.1:n.-234G>A
XM_006714816.2:c.-391G>A XP_006714879.1:n.-391G>A
XM_011534421.1:c.-234G>A XP_011532723.1:n.-234G>A
XM_006714816.4:c.-391G>A XP_006714879.1:n.-391G>A
XM_017008999.2:c.-234G>A XP_016864488.1:n.-234G>A
NM_007255.3:c.109G>A MANE Select NP_009186.1:p.Ala37Thr