Canonical Allele Identifier: CA447993926
Gene: B4GALT7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177607443G>C , CM000667.2:g.177607443G>C GRCh38
NC_000005.9:g.177034444G>C , CM000667.1:g.177034444G>C GRCh37
NC_000005.8:g.176967050G>C NCBI36
NG_015977.1:g.12326G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000029410.10:c.555G>C MANE Select ENSP00000029410.5:p.Val185=
ENST00000029410.9:c.555G>C ENSP00000029410.5:p.Val185=
ENST00000502420.1:n.534G>C
ENST00000505145.1:n.1653G>C
ENST00000505433.5:c.*61G>C ENSP00000425591.1:n.*61G>C
ENST00000515353.1:n.79G>C
NM_007255.2:c.555G>C NP_009186.1:p.Val185=
XM_005265805.2:c.213G>C XP_005265862.1:p.Val71=
XM_006714816.2:c.75G>C XP_006714879.1:p.Val25=
XM_011534421.1:c.213G>C XP_011532723.1:p.Val71=
XM_006714816.4:c.75G>C XP_006714879.1:p.Val25=
XM_017008999.2:c.213G>C XP_016864488.1:p.Val71=
NM_007255.3:c.555G>C MANE Select NP_009186.1:p.Val185=