Canonical Allele Identifier: CA3586614
Gene: B4GALT7 HGNC NCBI

Linked Data

ClinVar Variation Id: 253110
ClinVar RCV Id: RCV000239469 RCV001551344
dbSNP Id: rs753594601
ExAC: 5:177035541 G / A
gnomAD v2: 5-177035541-G-A
gnomAD v3: 5-177608540-G-A
gnomAD v4: 5-177608540-G-A
MyVariant Identifiers: chr5:g.177035541G>A (hg19) chr5:g.177608540G>A (hg38)
PubMed: PMID:26940150
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177608540G>A , CM000667.2:g.177608540G>A GRCh38
NC_000005.9:g.177035541G>A , CM000667.1:g.177035541G>A GRCh37
NC_000005.8:g.176968147G>A NCBI36
NG_015977.1:g.13423G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000029410.10:c.641G>A MANE Select ENSP00000029410.5:p.Cys214Tyr
ENST00000029410.9:c.641G>A ENSP00000029410.5:p.Cys214Tyr
ENST00000505145.1:n.1739G>A
ENST00000505433.5:c.*147G>A ENSP00000425591.1:n.*147G>A
ENST00000515353.1:n.1176G>A
NM_007255.2:c.641G>A NP_009186.1:p.Cys214Tyr
XM_005265805.2:c.299G>A XP_005265862.1:p.Cys100Tyr
XM_006714816.2:c.161G>A XP_006714879.1:p.Cys54Tyr
XM_011534421.1:c.299G>A XP_011532723.1:p.Cys100Tyr
XM_006714816.4:c.161G>A XP_006714879.1:p.Cys54Tyr
XM_017008999.2:c.299G>A XP_016864488.1:p.Cys100Tyr
NM_007255.3:c.641G>A MANE Select NP_009186.1:p.Cys214Tyr
Search 100 bp 5'
Search 100 bp 3'