Canonical Allele Identifier: CA3586693

Gene: B4GALT7

Linked Data

• dbSNP Id: rs538600624
• ExAC: 5:177036004 G / A
• gnomAD v2: 5-177036004-G-A
• gnomAD v3: 5-177609003-G-A
• gnomAD v4: 5-177609003-G-A
• COSMIC: COSM1184348
• MyVariant Identifiers: chr5:g.177036004G>A (hg19) ; chr5:g.177609003G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177609003G>A , CM000667.2:g.177609003G>A	GRCh38
NC_000005.9:g.177036004G>A , CM000667.1:g.177036004G>A	GRCh37
NC_000005.8:g.176968610G>A	NCBI36
NG_015977.1:g.13886G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.817G>A MANE Select	ENSP00000029410.5:p.Ala273Thr
ENST00000029410.9:c.817G>A	ENSP00000029410.5:p.Ala273Thr
ENST00000505145.1:n.1915G>A
ENST00000505433.5:c.*323G>A	ENSP00000425591.1:n.*323G>A
ENST00000515353.1:n.1639G>A
NM_007255.2:c.817G>A	NP_009186.1:p.Ala273Thr
XM_005265805.2:c.475G>A	XP_005265862.1:p.Ala159Thr
XM_006714816.2:c.337G>A	XP_006714879.1:p.Ala113Thr
XM_011534421.1:c.475G>A	XP_011532723.1:p.Ala159Thr
XM_006714816.4:c.337G>A	XP_006714879.1:p.Ala113Thr
XM_017008999.2:c.475G>A	XP_016864488.1:p.Ala159Thr
NM_007255.3:c.817G>A MANE Select	NP_009186.1:p.Ala273Thr