Canonical Allele Identifier: CA808137038

Gene: B4GALT7

Linked Data

• dbSNP Id: rs1227121996
• gnomAD v4: 5-177608705-G-T
• MyVariant Identifiers: chr5:g.177035706G>T (hg19) ; chr5:g.177608705G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608705G>T , CM000667.2:g.177608705G>T	GRCh38
NC_000005.9:g.177035706G>T , CM000667.1:g.177035706G>T	GRCh37
NC_000005.8:g.176968312G>T	NCBI36
NG_015977.1:g.13588G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.723+83G>T MANE Select	ENSP00000029410.5:n.723+83G>T
ENST00000029410.9:c.723+83G>T	ENSP00000029410.5:n.723+83G>T
ENST00000505145.1:n.1821+83G>T
ENST00000505433.5:c.*229+83G>T	ENSP00000425591.1:n.*229+83G>T
ENST00000515353.1:n.1341G>T
NM_007255.2:c.723+83G>T	NP_009186.1:n.723+83G>T
XM_005265805.2:c.381+83G>T	XP_005265862.1:n.381+83G>T
XM_006714816.2:c.243+83G>T	XP_006714879.1:n.243+83G>T
XM_011534421.1:c.381+83G>T	XP_011532723.1:n.381+83G>T
XM_006714816.4:c.243+83G>T	XP_006714879.1:n.243+83G>T
XM_017008999.2:c.381+83G>T	XP_016864488.1:n.381+83G>T
NM_007255.3:c.723+83G>T MANE Select	NP_009186.1:n.723+83G>T