Canonical Allele Identifier: CA3586437
Gene: B4GALT7 HGNC NCBI

Linked Data

ClinVar Variation Id: 386362
dbSNP Id: rs114036939

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177604425G>T , CM000667.2:g.177604425G>T GRCh38
NC_000005.9:g.177031426G>T , CM000667.1:g.177031426G>T GRCh37
NC_000005.8:g.176964032G>T NCBI36
NG_015977.1:g.9308G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000029410.10:c.297G>T MANE Select ENSP00000029410.5:p.Val99=
ENST00000029410.9:c.297G>T ENSP00000029410.5:p.Val99=
ENST00000502420.1:n.276G>T
ENST00000505433.5:c.297G>T ENSP00000425591.1:p.Val99=
ENST00000505468.1:c.-46G>T ENSP00000420886.1:n.-46G>T
ENST00000507061.1:c.114G>T ENSP00000423868.1:p.Val38=
ENST00000510761.1:c.-46G>T ENSP00000423438.1:n.-46G>T
NM_007255.2:c.297G>T NP_009186.1:p.Val99=
XM_005265805.2:c.-46G>T XP_005265862.1:n.-46G>T
XM_006714816.2:c.-203G>T XP_006714879.1:n.-203G>T
XM_011534421.1:c.-46G>T XP_011532723.1:n.-46G>T
XM_006714816.4:c.-203G>T XP_006714879.1:n.-203G>T
XM_017008999.2:c.-46G>T XP_016864488.1:n.-46G>T
NM_007255.3:c.297G>T MANE Select NP_009186.1:p.Val99=