Canonical Allele Identifier: CA447984074

Gene: B4GALT7

Linked Data

• dbSNP Id: rs1422016951
• gnomAD v2: 5-177031270-C-G
• gnomAD v4: 5-177604269-C-G
• MyVariant Identifiers: chr5:g.177031270C>G (hg19) ; chr5:g.177604269C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604269C>G , CM000667.2:g.177604269C>G	GRCh38
NC_000005.9:g.177031270C>G , CM000667.1:g.177031270C>G	GRCh37
NC_000005.8:g.176963876C>G	NCBI36
NG_015977.1:g.9152C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.141C>G MANE Select	ENSP00000029410.5:p.Leu47=
ENST00000029410.9:c.141C>G	ENSP00000029410.5:p.Leu47=
ENST00000502420.1:n.130-10C>G
ENST00000505433.5:c.141C>G	ENSP00000425591.1:p.Leu47=
ENST00000505468.1:c.-202C>G	ENSP00000420886.1:n.-202C>G
ENST00000510761.1:c.-202C>G	ENSP00000423438.1:n.-202C>G
NM_007255.2:c.141C>G	NP_009186.1:p.Leu47=
XM_005265805.2:c.-202C>G	XP_005265862.1:n.-202C>G
XM_006714816.2:c.-359C>G	XP_006714879.1:n.-359C>G
XM_011534421.1:c.-202C>G	XP_011532723.1:n.-202C>G
XM_006714816.4:c.-359C>G	XP_006714879.1:n.-359C>G
XM_017008999.2:c.-202C>G	XP_016864488.1:n.-202C>G
NM_007255.3:c.141C>G MANE Select	NP_009186.1:p.Leu47=