Canonical Allele Identifier: CA564518512

Gene: B4GALT7

Linked Data

• dbSNP Id: rs1278498492
• gnomAD v2: 5-177031665-G-C
• gnomAD v3: 5-177604664-G-C
• gnomAD v4: 5-177604664-G-C
• MyVariant Identifiers: chr5:g.177031665G>C (hg19) ; chr5:g.177604664G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604664G>C , CM000667.2:g.177604664G>C	GRCh38
NC_000005.9:g.177031665G>C , CM000667.1:g.177031665G>C	GRCh37
NC_000005.8:g.176964271G>C	NCBI36
NG_015977.1:g.9547G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.413+123G>C MANE Select	ENSP00000029410.5:n.413+123G>C
ENST00000029410.9:c.413+123G>C	ENSP00000029410.5:n.413+123G>C
ENST00000502420.1:n.392+123G>C
ENST00000505433.5:c.413+123G>C	ENSP00000425591.1:n.413+123G>C
ENST00000505468.1:c.71+123G>C	ENSP00000420886.1:n.71+123G>C
ENST00000507061.1:c.230+123G>C	ENSP00000423868.1:n.230+123G>C
ENST00000510761.1:c.71+123G>C	ENSP00000423438.1:n.71+123G>C
NM_007255.2:c.413+123G>C	NP_009186.1:n.413+123G>C
XM_005265805.2:c.71+123G>C	XP_005265862.1:n.71+123G>C
XM_006714816.2:c.-87+123G>C	XP_006714879.1:n.-87+123G>C
XM_011534421.1:c.71+123G>C	XP_011532723.1:n.71+123G>C
XM_006714816.4:c.-87+123G>C	XP_006714879.1:n.-87+123G>C
XM_017008999.2:c.71+123G>C	XP_016864488.1:n.71+123G>C
NM_007255.3:c.413+123G>C MANE Select	NP_009186.1:n.413+123G>C