Canonical Allele Identifier: CA3586646

Gene: B4GALT7

Linked Data

• ClinVar Variation Id: 2715882
• ClinVar RCV Id: RCV003892055
• dbSNP Id: rs772061724
• ExAC: 5:177035635 C / T
• gnomAD v2: 5-177035635-C-T
• gnomAD v3: 5-177608634-C-T
• gnomAD v4: 5-177608634-C-T
• MyVariant Identifiers: chr5:g.177035635C>T (hg19) ; chr5:g.177035635_177035636delinsTG (hg19) ; chr5:g.177608634C>T (hg38) ; chr5:g.177608634_177608635delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608634C>T , CM000667.2:g.177608634C>T	GRCh38
NC_000005.9:g.177035635C>T , CM000667.1:g.177035635C>T	GRCh37
NC_000005.8:g.176968241C>T	NCBI36
NG_015977.1:g.13517C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.723+12C>T MANE Select	ENSP00000029410.5:n.723+12C>T
ENST00000029410.9:c.723+12C>T	ENSP00000029410.5:n.723+12C>T
ENST00000505145.1:n.1821+12C>T
ENST00000505433.5:c.*229+12C>T	ENSP00000425591.1:n.*229+12C>T
ENST00000515353.1:n.1270C>T
NM_007255.2:c.723+12C>T	NP_009186.1:n.723+12C>T
XM_005265805.2:c.381+12C>T	XP_005265862.1:n.381+12C>T
XM_006714816.2:c.243+12C>T	XP_006714879.1:n.243+12C>T
XM_011534421.1:c.381+12C>T	XP_011532723.1:n.381+12C>T
XM_006714816.4:c.243+12C>T	XP_006714879.1:n.243+12C>T
XM_017008999.2:c.381+12C>T	XP_016864488.1:n.381+12C>T
NM_007255.3:c.723+12C>T MANE Select	NP_009186.1:n.723+12C>T