Canonical Allele Identifier: CA3586450

Gene: B4GALT7

Linked Data

• dbSNP Id: rs758058316
• ExAC: 5:177031489 C / T
• gnomAD v2: 5-177031489-C-T
• gnomAD v4: 5-177604488-C-T
• MyVariant Identifiers: chr5:g.177031489C>T (hg19) ; chr5:g.177604488C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604488C>T , CM000667.2:g.177604488C>T	GRCh38
NC_000005.9:g.177031489C>T , CM000667.1:g.177031489C>T	GRCh37
NC_000005.8:g.176964095C>T	NCBI36
NG_015977.1:g.9371C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.360C>T MANE Select	ENSP00000029410.5:p.Ser120=
ENST00000029410.9:c.360C>T	ENSP00000029410.5:p.Ser120=
ENST00000502420.1:n.339C>T
ENST00000505433.5:c.360C>T	ENSP00000425591.1:p.Ser120=
ENST00000505468.1:c.18C>T	ENSP00000420886.1:p.Ser6=
ENST00000507061.1:c.177C>T	ENSP00000423868.1:p.Ser59=
ENST00000510761.1:c.18C>T	ENSP00000423438.1:p.Ser6=
NM_007255.2:c.360C>T	NP_009186.1:p.Ser120=
XM_005265805.2:c.18C>T	XP_005265862.1:p.Ser6=
XM_006714816.2:c.-140C>T	XP_006714879.1:n.-140C>T
XM_011534421.1:c.18C>T	XP_011532723.1:p.Ser6=
XM_006714816.4:c.-140C>T	XP_006714879.1:n.-140C>T
XM_017008999.2:c.18C>T	XP_016864488.1:p.Ser6=
NM_007255.3:c.360C>T MANE Select	NP_009186.1:p.Ser120=