Canonical Allele Identifier: CA3586423

Gene: B4GALT7

Linked Data

• dbSNP Id: rs759226446
• ExAC: 5:177031387 A / C
• gnomAD v2: 5-177031387-A-C
• gnomAD v4: 5-177604386-A-C
• MyVariant Identifiers: chr5:g.177031387A>C (hg19) ; chr5:g.177604386A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604386A>C , CM000667.2:g.177604386A>C	GRCh38
NC_000005.9:g.177031387A>C , CM000667.1:g.177031387A>C	GRCh37
NC_000005.8:g.176963993A>C	NCBI36
NG_015977.1:g.9269A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.258A>C MANE Select	ENSP00000029410.5:p.Glu86Asp
ENST00000029410.9:c.258A>C	ENSP00000029410.5:p.Glu86Asp
ENST00000502420.1:n.237A>C
ENST00000505433.5:c.258A>C	ENSP00000425591.1:p.Glu86Asp
ENST00000505468.1:c.-85A>C	ENSP00000420886.1:n.-85A>C
ENST00000507061.1:c.75A>C	ENSP00000423868.1:p.Glu25Asp
ENST00000510761.1:c.-85A>C	ENSP00000423438.1:n.-85A>C
NM_007255.2:c.258A>C	NP_009186.1:p.Glu86Asp
XM_005265805.2:c.-85A>C	XP_005265862.1:n.-85A>C
XM_006714816.2:c.-242A>C	XP_006714879.1:n.-242A>C
XM_011534421.1:c.-85A>C	XP_011532723.1:n.-85A>C
XM_006714816.4:c.-242A>C	XP_006714879.1:n.-242A>C
XM_017008999.2:c.-85A>C	XP_016864488.1:n.-85A>C
NM_007255.3:c.258A>C MANE Select	NP_009186.1:p.Glu86Asp