Canonical Allele Identifier: CA447984337

Gene: B4GALT7

Linked Data

• ClinVar Variation Id: 1901651
• ClinVar RCV Id: RCV003891379
• dbSNP Id: rs1478881105
• gnomAD v2: 5-177031480-C-T
• gnomAD v3: 5-177604479-C-T
• gnomAD v4: 5-177604479-C-T
• MyVariant Identifiers: chr5:g.177031480C>T (hg19) ; chr5:g.177604479C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604479C>T , CM000667.2:g.177604479C>T	GRCh38
NC_000005.9:g.177031480C>T , CM000667.1:g.177031480C>T	GRCh37
NC_000005.8:g.176964086C>T	NCBI36
NG_015977.1:g.9362C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.351C>T MANE Select	ENSP00000029410.5:p.Arg117=
ENST00000029410.9:c.351C>T	ENSP00000029410.5:p.Arg117=
ENST00000502420.1:n.330C>T
ENST00000505433.5:c.351C>T	ENSP00000425591.1:p.Arg117=
ENST00000505468.1:c.9C>T	ENSP00000420886.1:p.Arg3=
ENST00000507061.1:c.168C>T	ENSP00000423868.1:p.Arg56=
ENST00000510761.1:c.9C>T	ENSP00000423438.1:p.Arg3=
NM_007255.2:c.351C>T	NP_009186.1:p.Arg117=
XM_005265805.2:c.9C>T	XP_005265862.1:p.Arg3=
XM_006714816.2:c.-149C>T	XP_006714879.1:n.-149C>T
XM_011534421.1:c.9C>T	XP_011532723.1:p.Arg3=
XM_006714816.4:c.-149C>T	XP_006714879.1:n.-149C>T
XM_017008999.2:c.9C>T	XP_016864488.1:p.Arg3=
NM_007255.3:c.351C>T MANE Select	NP_009186.1:p.Arg117=