Canonical Allele Identifier: CA362376571

Gene: B4GALT7

Linked Data

• dbSNP Id: rs1561816183
• gnomAD v4: 5-177608621-A-G
• MyVariant Identifiers: chr5:g.177035622A>G (hg19) ; chr5:g.177608621A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608621A>G , CM000667.2:g.177608621A>G	GRCh38
NC_000005.9:g.177035622A>G , CM000667.1:g.177035622A>G	GRCh37
NC_000005.8:g.176968228A>G	NCBI36
NG_015977.1:g.13504A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.722A>G MANE Select	ENSP00000029410.5:p.Gln241Arg
ENST00000029410.9:c.722A>G	ENSP00000029410.5:p.Gln241Arg
ENST00000505145.1:n.1820A>G
ENST00000505433.5:c.*228A>G	ENSP00000425591.1:n.*228A>G
ENST00000515353.1:n.1257A>G
NM_007255.2:c.722A>G	NP_009186.1:p.Gln241Arg
XM_005265805.2:c.380A>G	XP_005265862.1:p.Gln127Arg
XM_006714816.2:c.242A>G	XP_006714879.1:p.Gln81Arg
XM_011534421.1:c.380A>G	XP_011532723.1:p.Gln127Arg
XM_006714816.4:c.242A>G	XP_006714879.1:p.Gln81Arg
XM_017008999.2:c.380A>G	XP_016864488.1:p.Gln127Arg
NM_007255.3:c.722A>G MANE Select	NP_009186.1:p.Gln241Arg