Canonical Allele Identifier: CA808137043

Gene: B4GALT7

Linked Data

• dbSNP Id: rs1356342912
• gnomAD v3: 5-177608707-G-C
• gnomAD v4: 5-177608707-G-C
• MyVariant Identifiers: chr5:g.177035708G>C (hg19) ; chr5:g.177608707G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608707G>C , CM000667.2:g.177608707G>C	GRCh38
NC_000005.9:g.177035708G>C , CM000667.1:g.177035708G>C	GRCh37
NC_000005.8:g.176968314G>C	NCBI36
NG_015977.1:g.13590G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.723+85G>C MANE Select	ENSP00000029410.5:n.723+85G>C
ENST00000029410.9:c.723+85G>C	ENSP00000029410.5:n.723+85G>C
ENST00000505145.1:n.1821+85G>C
ENST00000505433.5:c.*229+85G>C	ENSP00000425591.1:n.*229+85G>C
ENST00000515353.1:n.1343G>C
NM_007255.2:c.723+85G>C	NP_009186.1:n.723+85G>C
XM_005265805.2:c.381+85G>C	XP_005265862.1:n.381+85G>C
XM_006714816.2:c.243+85G>C	XP_006714879.1:n.243+85G>C
XM_011534421.1:c.381+85G>C	XP_011532723.1:n.381+85G>C
XM_006714816.4:c.243+85G>C	XP_006714879.1:n.243+85G>C
XM_017008999.2:c.381+85G>C	XP_016864488.1:n.381+85G>C
NM_007255.3:c.723+85G>C MANE Select	NP_009186.1:n.723+85G>C