Canonical Allele Identifier: CA12985138
Gene: B4GALT1 HGNC NCBI
COSMIC:
COSN14994636 (not active)
MyVariant.info:
GRCh38 chr9:g.33122647G>C
GRCh37 chr9:g.33122645G>C
gnomAD v2:
9:33122645 G / C
gnomAD v3:
9:33122647 G / C
gnomAD v4:
chr9-33122647-G-C
Joint Max Group AF 0.57575786 (EAS)
Genomes Max Group AF 0.57575786 (EAS)
dbSNP:
10113903
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.33122647G>C , CM000671.2:g.33122647G>C GRCh38
NC_000009.11:g.33122645G>C , CM000671.1:g.33122645G>C GRCh37
NC_000009.10:g.33112645G>C NCBI36
NG_008919.1:g.49712C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379731.5:c.649-2041C>G MANE Select ENSP00000369055.4:n.649-2041C>G
ENST00000379731.4:c.649-2041C>G ENSP00000369055.4:n.649-2041C>G
ENST00000535206.5:c.648+12542C>G ENSP00000440341.1:n.648+12542C>G
NM_001497.3:c.649-2041C>G NP_001488.2:n.649-2041C>G
XM_005251440.3:c.649-2041C>G XP_005251497.1:n.649-2041C>G
XM_005251440.5:c.649-2041C>G XP_005251497.1:n.649-2041C>G
NM_001378495.1:c.610-2041C>G NP_001365424.1:n.610-2041C>G
NM_001378496.1:c.649-2041C>G NP_001365425.1:n.649-2041C>G
NM_001378497.1:c.648+12542C>G NP_001365426.1:n.648+12542C>G
NM_001497.4:c.649-2041C>G MANE Select NP_001488.2:n.649-2041C>G
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