Canonical Allele Identifier: CA3586692

Gene: B4GALT7

Linked Data

• ClinVar Variation Id: 389383
• ClinVar RCV Id: RCV000429366 ; RCV001066223 ; RCV002522511
• dbSNP Id: rs146632722
• ExAC: 5:177036001 G / A
• gnomAD v2: 5-177036001-G-A
• gnomAD v3: 5-177609000-G-A
• gnomAD v4: 5-177609000-G-A
• MyVariant Identifiers: chr5:g.177036001G>A (hg19) ; chr5:g.177609000G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177609000G>A , CM000667.2:g.177609000G>A	GRCh38
NC_000005.9:g.177036001G>A , CM000667.1:g.177036001G>A	GRCh37
NC_000005.8:g.176968607G>A	NCBI36
NG_015977.1:g.13883G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.814G>A MANE Select	ENSP00000029410.5:p.Ala272Thr
ENST00000029410.9:c.814G>A	ENSP00000029410.5:p.Ala272Thr
ENST00000505145.1:n.1912G>A
ENST00000505433.5:c.*320G>A	ENSP00000425591.1:n.*320G>A
ENST00000515353.1:n.1636G>A
NM_007255.2:c.814G>A	NP_009186.1:p.Ala272Thr
XM_005265805.2:c.472G>A	XP_005265862.1:p.Ala158Thr
XM_006714816.2:c.334G>A	XP_006714879.1:p.Ala112Thr
XM_011534421.1:c.472G>A	XP_011532723.1:p.Ala158Thr
XM_006714816.4:c.334G>A	XP_006714879.1:p.Ala112Thr
XM_017008999.2:c.472G>A	XP_016864488.1:p.Ala158Thr
NM_007255.3:c.814G>A MANE Select	NP_009186.1:p.Ala272Thr