Canonical Allele Identifier: CA132896883
Gene: B4GALT7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1208774
ClinVar RCV Id: RCV001577210 RCV001866070
dbSNP Id: rs143680535
gnomAD v2: 5-177035998-A-C
gnomAD v3: 5-177608997-A-C
gnomAD v4: 5-177608997-A-C
MyVariant Identifiers: chr5:g.177035998A>C (hg19) chr5:g.177608997A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177608997A>C , CM000667.2:g.177608997A>C GRCh38
NC_000005.9:g.177035998A>C , CM000667.1:g.177035998A>C GRCh37
NC_000005.8:g.176968604A>C NCBI36
NG_015977.1:g.13880A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000029410.10:c.811A>C MANE Select ENSP00000029410.5:p.Ile271Leu
ENST00000029410.9:c.811A>C ENSP00000029410.5:p.Ile271Leu
ENST00000505145.1:n.1909A>C
ENST00000505433.5:c.*317A>C ENSP00000425591.1:n.*317A>C
ENST00000515353.1:n.1633A>C
NM_007255.2:c.811A>C NP_009186.1:p.Ile271Leu
XM_005265805.2:c.469A>C XP_005265862.1:p.Ile157Leu
XM_006714816.2:c.331A>C XP_006714879.1:p.Ile111Leu
XM_011534421.1:c.469A>C XP_011532723.1:p.Ile157Leu
XM_006714816.4:c.331A>C XP_006714879.1:p.Ile111Leu
XM_017008999.2:c.469A>C XP_016864488.1:p.Ile157Leu
NM_007255.3:c.811A>C MANE Select NP_009186.1:p.Ile271Leu
Search 100 bp 5'
Search 100 bp 3'