Canonical Allele Identifier: CA362373826

Gene: B4GALT7

Linked Data

• ClinVar Variation Id: 1676000
• ClinVar RCV Id: RCV002214369
• dbSNP Id: rs1131691521
• MyVariant Identifiers: chr5:g.177031442T>C (hg19) ; chr5:g.177604441T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604441T>C , CM000667.2:g.177604441T>C	GRCh38
NC_000005.9:g.177031442T>C , CM000667.1:g.177031442T>C	GRCh37
NC_000005.8:g.176964048T>C	NCBI36
NG_015977.1:g.9324T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.313T>C MANE Select	ENSP00000029410.5:p.Phe105Leu
ENST00000029410.9:c.313T>C	ENSP00000029410.5:p.Phe105Leu
ENST00000502420.1:n.292T>C
ENST00000505433.5:c.313T>C	ENSP00000425591.1:p.Phe105Leu
ENST00000505468.1:c.-30T>C	ENSP00000420886.1:n.-30T>C
ENST00000507061.1:c.130T>C	ENSP00000423868.1:p.Phe44Leu
ENST00000510761.1:c.-30T>C	ENSP00000423438.1:n.-30T>C
NM_007255.2:c.313T>C	NP_009186.1:p.Phe105Leu
XM_005265805.2:c.-30T>C	XP_005265862.1:n.-30T>C
XM_006714816.2:c.-187T>C	XP_006714879.1:n.-187T>C
XM_011534421.1:c.-30T>C	XP_011532723.1:n.-30T>C
XM_006714816.4:c.-187T>C	XP_006714879.1:n.-187T>C
XM_017008999.2:c.-30T>C	XP_016864488.1:n.-30T>C
NM_007255.3:c.313T>C MANE Select	NP_009186.1:p.Phe105Leu