Canonical Allele Identifier: CA2676759001

Gene: B4GALT7

Linked Data

• gnomAD v4: 5-177608763-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608763C>T , CM000667.2:g.177608763C>T	GRCh38
NC_000005.9:g.177035764C>T , CM000667.1:g.177035764C>T	GRCh37
NC_000005.8:g.176968370C>T	NCBI36
NG_015977.1:g.13646C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.723+141C>T MANE Select	ENSP00000029410.5:n.723+141C>T
ENST00000029410.9:c.723+141C>T	ENSP00000029410.5:n.723+141C>T
ENST00000505145.1:n.1821+141C>T
ENST00000505433.5:c.*229+141C>T	ENSP00000425591.1:n.*229+141C>T
ENST00000515353.1:n.1399C>T
NM_007255.2:c.723+141C>T	NP_009186.1:n.723+141C>T
XM_005265805.2:c.381+141C>T	XP_005265862.1:n.381+141C>T
XM_006714816.2:c.243+141C>T	XP_006714879.1:n.243+141C>T
XM_011534421.1:c.381+141C>T	XP_011532723.1:n.381+141C>T
XM_006714816.4:c.243+141C>T	XP_006714879.1:n.243+141C>T
XM_017008999.2:c.381+141C>T	XP_016864488.1:n.381+141C>T
NM_007255.3:c.723+141C>T MANE Select	NP_009186.1:n.723+141C>T