Canonical Allele Identifier: CA117647
Gene: B4GALT7 HGNC NCBI

Linked Data

ClinVar Variation Id: 5612
ClinVar RCV Id: RCV000005964
dbSNP Id: rs121917818

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177607505T>C , CM000667.2:g.177607505T>C GRCh38
NC_000005.9:g.177034506T>C , CM000667.1:g.177034506T>C GRCh37
NC_000005.8:g.176967112T>C NCBI36
NG_015977.1:g.12388T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000029410.10:c.617T>C MANE Select ENSP00000029410.5:p.Leu206Pro
ENST00000029410.9:c.617T>C ENSP00000029410.5:p.Leu206Pro
ENST00000502420.1:n.596T>C
ENST00000505145.1:n.1715T>C
ENST00000505433.5:c.*123T>C ENSP00000425591.1:n.*123T>C
ENST00000515353.1:n.141T>C
NM_007255.2:c.617T>C NP_009186.1:p.Leu206Pro
XM_005265805.2:c.275T>C XP_005265862.1:p.Leu92Pro
XM_006714816.2:c.137T>C XP_006714879.1:p.Leu46Pro
XM_011534421.1:c.275T>C XP_011532723.1:p.Leu92Pro
XM_006714816.4:c.137T>C XP_006714879.1:p.Leu46Pro
XM_017008999.2:c.275T>C XP_016864488.1:p.Leu92Pro
NM_007255.3:c.617T>C MANE Select NP_009186.1:p.Leu206Pro