Canonical Allele Identifier: CA3586344

Gene: B4GALT7

Linked Data

• ClinVar Variation Id: 282261
• ClinVar RCV Id: RCV000344285 ; RCV000725058 ; RCV002278270 ; RCV002470837
• dbSNP Id: rs200503833
• ExAC: 5:177027249 G / A
• gnomAD v2: 5-177027249-G-A
• gnomAD v3: 5-177600248-G-A
• gnomAD v4: 5-177600248-G-A
• MyVariant Identifiers: chr5:g.177027249G>A (hg19) ; chr5:g.177027249_177027252delinsAGGA (hg19) ; chr5:g.177600248G>A (hg38) ; chr5:g.177600248_177600251delinsAGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177600248G>A , CM000667.2:g.177600248G>A	GRCh38
NC_000005.9:g.177027249G>A , CM000667.1:g.177027249G>A	GRCh37
NC_000005.8:g.176959855G>A	NCBI36
NG_015977.1:g.5131G>A
NG_051237.1:g.13101G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.38G>A MANE Select	ENSP00000029410.5:p.Trp13Ter
ENST00000029410.9:c.38G>A	ENSP00000029410.5:p.Trp13Ter
ENST00000502420.1:n.117G>A
ENST00000505433.5:c.38G>A	ENSP00000425591.1:p.Trp13Ter
ENST00000505468.1:c.-418G>A	ENSP00000420886.1:n.-418G>A
ENST00000510761.1:c.-383G>A	ENSP00000423438.1:n.-383G>A
NM_007255.2:c.38G>A	NP_009186.1:p.Trp13Ter
XM_006714816.2:c.-462G>A	XP_006714879.1:n.-462G>A
XM_006714816.4:c.-462G>A	XP_006714879.1:n.-462G>A
NM_007255.3:c.38G>A MANE Select	NP_009186.1:p.Trp13Ter