Canonical Allele Identifier: CA3586452

Gene: B4GALT7

Linked Data

• ClinVar Variation Id: 1363106
• ClinVar RCV Id: RCV001934752 ; RCV002550292
• dbSNP Id: rs201281389
• ExAC: 5:177031493 A / C
• gnomAD v2: 5-177031493-A-C
• gnomAD v3: 5-177604492-A-C
• gnomAD v4: 5-177604492-A-C
• MyVariant Identifiers: chr5:g.177031493A>C (hg19) ; chr5:g.177604492A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604492A>C , CM000667.2:g.177604492A>C	GRCh38
NC_000005.9:g.177031493A>C , CM000667.1:g.177031493A>C	GRCh37
NC_000005.8:g.176964099A>C	NCBI36
NG_015977.1:g.9375A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.364A>C MANE Select	ENSP00000029410.5:p.Lys122Gln
ENST00000029410.9:c.364A>C	ENSP00000029410.5:p.Lys122Gln
ENST00000502420.1:n.343A>C
ENST00000505433.5:c.364A>C	ENSP00000425591.1:p.Lys122Gln
ENST00000505468.1:c.22A>C	ENSP00000420886.1:p.Lys8Gln
ENST00000507061.1:c.181A>C	ENSP00000423868.1:p.Lys61Gln
ENST00000510761.1:c.22A>C	ENSP00000423438.1:p.Lys8Gln
NM_007255.2:c.364A>C	NP_009186.1:p.Lys122Gln
XM_005265805.2:c.22A>C	XP_005265862.1:p.Lys8Gln
XM_006714816.2:c.-136A>C	XP_006714879.1:n.-136A>C
XM_011534421.1:c.22A>C	XP_011532723.1:p.Lys8Gln
XM_006714816.4:c.-136A>C	XP_006714879.1:n.-136A>C
XM_017008999.2:c.22A>C	XP_016864488.1:p.Lys8Gln
NM_007255.3:c.364A>C MANE Select	NP_009186.1:p.Lys122Gln