Canonical Allele Identifier: CA447985338

Gene: B4GALT7

Linked Data

• gnomAD v4: 5-177608999-C-A
• MyVariant Identifiers: chr5:g.177036000C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608999C>A , CM000667.2:g.177608999C>A	GRCh38
NC_000005.9:g.177036000C>A , CM000667.1:g.177036000C>A	GRCh37
NC_000005.8:g.176968606C>A	NCBI36
NG_015977.1:g.13882C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.813C>A MANE Select	ENSP00000029410.5:p.Ile271=
ENST00000029410.9:c.813C>A	ENSP00000029410.5:p.Ile271=
ENST00000505145.1:n.1911C>A
ENST00000505433.5:c.*319C>A	ENSP00000425591.1:n.*319C>A
ENST00000515353.1:n.1635C>A
NM_007255.2:c.813C>A	NP_009186.1:p.Ile271=
XM_005265805.2:c.471C>A	XP_005265862.1:p.Ile157=
XM_006714816.2:c.333C>A	XP_006714879.1:p.Ile111=
XM_011534421.1:c.471C>A	XP_011532723.1:p.Ile157=
XM_006714816.4:c.333C>A	XP_006714879.1:p.Ile111=
XM_017008999.2:c.471C>A	XP_016864488.1:p.Ile157=
NM_007255.3:c.813C>A MANE Select	NP_009186.1:p.Ile271=